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Retraction Note: lncRNA TINCR sponges miR-214-5p to upregulate ROCK1 in hepatocellular carcinoma BMC Med. Genet. (IF 2.023) Pub Date : 2021-03-12 Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou, Lin Ye
An amendment to this paper has been published and can be accessed via the original article.
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A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population BMC Med. Genet. (IF 2.023) Pub Date : 2020-12-17 Jung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, Suhg Namgoong, Hyun Sub Cheong, Lyoung Hyo Kim, Ji On Kim, Hyoung Doo Shin, Yoon Jun Kim
Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of complement factor B (CFB) was significantly associated with CHB risk. In this study, fine-mapping study of previously reported GWAS single nucleotide polymorphism (SNP; CFB rs12614) was performed
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Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis BMC Med. Genet. (IF 2.023) Pub Date : 2020-12-12 Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, Abdelaziz Sefiani
In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generation Sequencing (NGS) techniques have considerably improved clinical diagnostics. A genetic diagnosis showing biallelic causative mutations is the requirement for targeted
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DGAT1 mutations leading to delayed chronic diarrhoea: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-12-01 Luojia Xu, Weizhong Gu, Youyou Luo, Jingan Lou, Jie Chen
Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. Here, we report a female patient with DGAT1 mutations
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Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-30 Mariam Goubran, Ayodeji Aderibigbe, Emmanuel Jacquemin, Catherine Guettier, Safwat Girgis, Vincent Bain, Andrew L. Mason
Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylcholine from the inner to the outer canalicular membrane. In the absence of phosphatidylcholine
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Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-26 Rüdiger Schultz, Varpu Elenius, Heikki Lukkarinen, Tanja Saarela
Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microscopy (TEM) are not applicable for mutations in the DNAH11 gene since ultrastructural defects of the ciliary apparatus are absent. Novel mutations encoding for PCD appear all the time with considerable
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First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-26 Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel, Carina Kelbsch
Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45–90% of affected individuals with DOA harbor pathogenic variants in the OPA1 gene. The mutation spectrum of OPA1 comprises nonsense, canonical and non-canonical
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First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-26 Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin, Jing Peng
Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondrial diseases and congenital abnormalities in folate metabolism. Here we first present a Chinese
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Mice lacking global Stap1 expression do not manifest hypercholesterolemia BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-23 Babunageswararao Kanuri, Vincent Fong, April Haller, David Y. Hui, Shailendra B. Patel
Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identified a potential relationship with variants of the gene encoding signal transducing adaptor family member protein 1 (STAP1; MIM#604298). However, subsequent studies have been contradictory. In
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Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-23 Paula Sienes Bailo, Raquel Lahoz, Juan Pelegrín Sánchez Marín, Silvia Izquierdo Álvarez
Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type of population, diagnostic criteria, disease-modifying factors, etc.) make these data highly variable. Therefore, the genetic diagnosis of these patients is important, since it unequivocally allows
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Interleukin-4 gene polymorphism (C33T) and the risk of the asthma: a meta-analysis based on 24 publications BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-23 Danyal Imani, Mohammad Masoud Eslami, Gholamreza Anani-Sarab, Mansur Aliyu, Bahman Razi, Ramazan Rezaei
Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define a more reliable estimate of the association in the presence of filling published literature. An exhaustive search in Web of Science, Scopus, and PubMed databases was performed to identify all
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Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-23 Sally N. Adebamowo, Adebowale A. Adeyemo, Charles N. Rotimi, Olayinka Olaniyan, Richard Offiong, Clement A. Adebamowo
Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associated with cervical hrHPV infection and persistence. Participants were 517 Nigerian women evaluated at baseline and 6 months follow-up visits for HPV. HPV was characterized using SPF10/LiPA25. hrHPV
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Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-23 Zhen Zhang, Yi-shuang Xiao, Ru Shen, Hong-chao Jiang, Li Tan, Ren-qiu Li, Xiao-hong Yang, Huai-yu Gu, Wen-Ji He, Jing Ma
Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~ 30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and
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Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-19 Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti, Alberto Berardi
Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We report on an unusual presentation of Zellweger syndrome manifesting in a newborn with severe and fulminant sepsis, causing death during the neonatal period. A term male Caucasian neonate presented
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Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-19 Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White, Parveen Bhatti
Though bladder cancer has been the subject of many well-powered genome-wide association studies, the mechanisms involving bladder-cancer-associated single nucleotide polymorphisms (SNPs) remain largely unknown. This study focuses on rs798766, rs401681, rs2294008, and rs8102137, which have been associated with bladder cancer and are also cis-acting methylation quantitative loci (mQTL). Among 412 bladder
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Characterization of an N-terminal Nav1.5 channel variant – a potential risk factor for arrhythmias and sudden death? BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-19 Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel, Silke Kauferstein
Alterations in the SCN5A gene encoding the cardiac sodium channel Nav1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative cardiomyopathy (DCM), which may predispose to fatal arrhythmias and sudden death. We identified the heterozygous variant c.316A > G, p.(Ser106Gly) in a 35-year-old patient with survived cardiac
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Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-18 Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade
Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods
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Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-18 Giovanni Brandi, Alessandro Rizzo, Marzia Deserti, Valeria Relli, Valentina Indio, Sofia Bin, Milena Pariali, Andrea Palloni, Stefania De Lorenzo, Francesco Tovoli, Simona Tavolari
Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. Conversely, the occurrence of PLCs in Wilson disease patients is a rare event, in contrast with the occurrence observed in other chronic liver diseases. Here we report the clinical case of five
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Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-16 Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo
Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UD
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Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-13 Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao, Ming Sang
Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral blood. Clinical manifestations of HS are anaemia, haemolytic jaundice, and large spleen, and infection can worsen the condition, often with cholelithiasis. HS is mainly caused by abnormal functions
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Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-11 Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu, Zhichun Feng
Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD mutations and discussed the best method for prenatal diagnosis and genetic counseling of X-linked familial disorders
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Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-10 Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang, Wenzhe Zhou
Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and intrinsic factor antibodies. A Chinese patient presented with recurrent severe anemia since age 2 with low cobalamin level and
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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-10 Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta
Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes of PCD are the result of mutations in genes encoding components of axonema or factors involved
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Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-10 Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined. We report on two probands with novel loss-of-function variants in TRIO. Patient 1 presents
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The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-06 Zijin Li, Li Song, Lihong Hao
Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279 T > G) polymorphisms and NNH risk. We searched PubMed, the Cochrane Library, and the Embase electronic databases. All published eligible studies before July 1, 2019, were searched for this meta-analysis
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Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-05 Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen
Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs further study. We report one infant who presented with limb hypertonia, epilepsy, developmental delay, and increased serum lactate from a non-consanguineous Chinese family. Whole-genome sequencing
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NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study BMC Med. Genet. (IF 2.023) Pub Date : 2020-11-02 Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma
To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). After pre-test counselling, 200 unrelated individuals (including 88 couples) were screened for pathogenic variants in 88 genes by NGS technology. The variants were classified as per American College of Medical Genetics criteria. Pathogenic
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A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-31 Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang
SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay
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The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-31 Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as
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Novel variants of ABCA4 in Han Chinese families with Stargardt disease BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-31 Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu
Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current study aims at identifying the novel disease-related ABCA4 variants in Han Chinese families with STGD1 using next-generation sequencing (NGS). In the present study, 12 unrelated Han Chinese
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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov
Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen disease) and recessive form (Becker disease) and both are caused by pathogenic variants in the CLCN1 gene. Noncanonical splice site variants are often classified as variants of uncertain significance
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Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Ancha V. Baranova, Elena Yu. Leberfarb, Georgy S. Lebedev, Yuriy L. Orlov
Current medical genetics research is oriented on next-generation sequencing technologies, genomics studies [1, 2]. This special issue of BMC Medical Genetics presents the medical genetics works and case studies discussed at the “MGNGS-2019” conference in Suzdal, Russia in 2019, organized on the base of Moscow Medical Genetic Centre (http://ngs.med-gen.ru/). The Conference was focused on the discussion
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Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu, Hongbao Cao
Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and LSCC. Pathway analysis was performed to explore the interactive network, common-target network, and common-regulator
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Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang, Hongbao Cao
Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke. we firstly conducted large-scale literature based disease-gene relationship data analysis to explore the genes implicated with DVT and stroke. Further, a mega-analysis was conducted for each of these genes that were linked to DVT but not stroke
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Genetic polymorphisms of PIP5K2A and course of schizophrenia BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Evgeniya G. Poltavskaya, Olga Yu. Fedorenko, Natalya M. Vyalova, Elena G. Kornetova, Nikolay A. Bokhan, Anton J. M. Loonen, Svetlana A. Ivanova
Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic variants that affect clinical heterogeneity may ultimately reveal the genetic basis of the features of schizophrenia and suggest novel treatment targets. PIP5K2A (Phosphatidylinositol-4-Phosphate
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Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov, Ludmila Savinkova
Hemoglobin is a tetramer consisting of two α-chains and two β-chains of globin. Hereditary aberrations in the synthesis of one of the globin chains are at the root of thalassemia, one of the most prevalent monogenic diseases worldwide. In humans, in addition to α- and β-globins, embryonic zeta-globin and fetal γ-globin are expressed. Immediately after birth, the expression of fetal Aγ- and Gγ-globin
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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-22 Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko
Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagnostic search in some cases of ophthalmic pathology can be time- and cost-consuming. The most challenging situation can arise when prenatal diagnosis is needed during an ongoing pregnancy. A family
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A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-21 Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao
Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant in the FBN1 gene. This finding extended the variant spectrum of the FBN1 gene and will provide a solution for patients
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The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-21 Thitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, Naravut Suvannang, Atiporn Ingsathit, John Attia, Ammarin Thakkinstian
Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies. Studies were located from MEDLINE and Scopus from inception to 17th June 2018. Observational studies in adults with any polymorphism in ABCG2 or SLC2A9, and outcome including gout, hyperuricemia, and serum urate were included
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Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-21 Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous mutations are affected, while hemizygous males are not. We describe the clinical and molecular characteristics of 2 Russian patients with EIEE9 (females, ages 3 years
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Development of an immunogenomic landscape for the competing endogenous RNAs network of peri-implantitis BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-20 Yang Li, Jina Zheng, Chanjuan Gong, Kengfu Lan, Yuqing Shen, Xiaojun Ding
Peri-implantitis is an inflammation that occurs around the implant, resulting in varying degrees of inflammatory damage to the soft and hard tissues. The characteristic criterion is the loss of the supporting bone in an inflammatory environment. However, the specific mechanisms and biomarkers involved in peri-implantitis remain to be further studied. Recently, competing endogenous RNAs (ceRNA) and
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Investigation of INDEL variants in apoptosis: the relevance to gastric cancer BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-19 Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Antônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos, Ândrea Ribeiro-dos-Santos
Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. Gastric cancer (GC) is one of the most incident and aggressive types of cancer worldwide. In this study, we analyzed the distribution of INDEL variants in GC patients (Case) and individuals from
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p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-19 Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Jun Wang, Erin Neuschler, Oumar Kassogue, Mamadou L Keita, Cheick B Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Robert L Murphy, Seydou Doumbia, Lifang Hou, Mamoudou Maiga
The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may provide a consistent meta-analysis. Our goal was to perform a meta-analysis in order to assess the association of p.Arg72Pro variant of P53 gene with the risk of breast cancer. Databases such
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Effect of DNMT3A polymorphisms on CpG island hypermethylation in gastric mucosa BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-16 Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara, Tomiyasu Arisawa
CpG methylation of tumor suppressor genes occurs in the early stage of carcinogenesis. Detecting risk factors for aberrant CpG methylation is clinically important for predicting cancer development. DNA methyltransferase (DNMT) 3a is considered to play critical roles in the DNA methylation process during pathogenesis. In this study, we evaluated the association between DNMT3A polymorphisms (rs6733868
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Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-15 Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Levinus A. Dieleman, Dan Turner, Andrew D. Paterson, Kenneth Croitoru
Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of all IBD genetic risk variants. Also, patients with Crohn’s disease (CD) have been shown to have an altered gut microbiome, which might be a reflection of inflammation itself or an effect of
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Genotype-phenotype correlation of HbH disease in northern Iraq BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-15 Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus, Mohamad D. Ali
HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genotypes is fundamental for proper screening and prevention of thalassaemia in any region. The aim of this study was to explore the genetic arrangements of HbH disease and to correlate the genotypes
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KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-12 Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan, Michael R. Pins
Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children. Despite recent advancements in tumor genomics, there is limited data available regarding the genetic alterations characteristic of MA. The purpose of this study is to determine the frequency
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Influence of MIF polymorphisms on CpG island hyper-methylation of CDKN2A in the patients with ulcerative colitis BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-12 Naoko Sakurai, Tomoyuki Shibata, Masakatsu Nakamura, Hikaru Takano, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Ostuka, Tomomitsu Tahara, Tomiyasu Arisawa
CDKN2A hypermethylation is among the major events associated with carcinogenesis and is also observed in non-neoplastic colonic mucosa in patients with ulcerative colitis (UC). Macrophage migration inhibitory factor (MIF) plays a crucial role in promoting gastrointestinal inflammation characteristic of UC. The aim of this study is to explore associations between CDKN2A methylation status and MIF polymorphisms
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Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-12 Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung, Yeun-Jun Chung
Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. However, genetic alteration profiles of DDLPS as well as the role of NF1 mutations have not been studied extensively. The current study reports a patient presenting with rapidly growing DDLPS accompanied
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The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-09 Hui Yang, Xindie Zhou, Dongmei Xu, Gang Chen
This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population. We extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative
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Frequency of thrombophilia associated genes variants: population-based study BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-09 Natalia Wawrusiewicz-Kurylonek, Adam Jacek Krętowski, Renata Posmyk
Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic
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Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-08 Qing Liu, Mengling Liu, Tianshu Liu, Yiyi Yu
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS. Here, we report a germline heterozygous missense variant (c.299G > A) in exon 3 BMPR1A
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Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-02 Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski, Stanislaw Niemczyk
Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent advancements in genetic testing have revealed that clinical presentations vary from lack of symptoms, to multiorgan involvement. Tetralogy of Fallot, the most frequent complex congenital heart
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Altered expression of the DISC1 gene in peripheral blood of patients with schizophrenia BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-02 Xiaoqian Fu, Guofu Zhang, Yansong Liu, Ling Zhang, Fuquan Zhang, Conghua Zhou
Schizophrenia is a severe, heritable, and refractory psychiatric disorder. Several studies have shown that the disrupted in schizophrenia 1 (DISC1) gene is closely associated with schizophrenia by its role in neuronal morphology, synaptic function, brain development, and dopamine homeostasis etc. This study intended to investigate the expression levels of DISC1 gene in schizophrenia patients compared
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Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-02 Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu
Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes, KMT2D and KDM6A, are responsible for KS1 and KS2, respectively. A Chinese girl had persistent neonatal hypoglycemia
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Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-01 Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants
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Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel–Lindau disease: case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-10-01 Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li, Kan Gong
Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel–Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations in the VHL tumor suppressor gene, with most mutations occurring in the exons. To date, there have been no reports of CNS hemangioblastoma cases related to pathogenic variants in intron 2 of VHL
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A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma – a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-09-29 Maja Radman, Tanja Milicevic
Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. We present a patient
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Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-09-29 Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira, Laura L. Tosi
Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. We present a 14-year overview
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Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report BMC Med. Genet. (IF 2.023) Pub Date : 2020-09-29 Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ
Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical