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The Genomic Landscape of Pediatric Rheumatology Disorders in the Middle East Hum. Mutat. (IF 4.124) Pub Date : 2021-01-13 Basil M Fathalla; Ali Alsarhan; Samina Afzal; Maha EL Naofal; Ahmad Abou Tayoun
The landscape and clinical utility of comprehensive genomic investigations for a wide range of pediatric rheumatic disorders have not been fully characterized in the Middle East. Here seventy‐one pediatric patients, of diverse Arab origins, were clinically and genetically assessed for a spectrum of rheumatology‐related diseases at the only dedicated tertiary children's hospital in the United Arab Emirates
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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism Hum. Mutat. (IF 4.124) Pub Date : 2021-01-07 Cécile Saint‐Martin; Marine Cauchois‐Le Mière; Emily Rex; Omar Soukarieh; Jean‐Baptiste Arnoux; Julien Buratti; Delphine Bouvet; Thierry Frébourg; Pascaline Gaildrat; Show‐Ling Shyng; Christine Bellanné‐Chantelot; Alexandra Martins
ABCC8 encodes the SUR1 subunit of the β‐cell ATP‐sensitive potassium channel whose loss of function causes congenital hyperinsulinism (CHI). Molecular diagnosis is critical for optimal management of CHI patients. Unfortunately, assessing the impact of ABCC8 variants on RNA splicing remains very challenging as this gene is poorly expressed in leukocytes.
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Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance Hum. Mutat. (IF 4.124) Pub Date : 2020-12-21 Sarah L. Stenton; Dorota Piekutowska‐Abramczuk; Lea Kulterer; Robert Kopajtich; Kristl G. Claeys; Elżbieta Ciara; Johannes Eisen; Rafał Płoski; Ewa Pronicka; Katarzyna Malczyk; Matias Wagner; Saskia B. Wortmann; Holger Prokisch
Ferrodoxin reductase (FDXR) deficiency is a mitochondrial disease described in recent years primarily in association with optic atrophy, acoustic neuropathy, and developmental delays. Here, we identified seven unpublished patients with FDXR deficiency belonging to six independent families. These patients show a broad clinical spectrum ranging from Leigh syndrome with early demise and severe infantile‐onset
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Mutations in KIF7 Implicated in Idiopathic Scoliosis in Humans and Axial Curvatures in Zebrafish Hum. Mutat. (IF 4.124) Pub Date : 2020-12-31 Elizabeth A. Terhune; Melissa T. Cuevas; Anna M. Monley; Cambria I. Wethey; Xiaomi Chen; Maria V. Cattel; Melisa N. Bayrak; Morgan R. Bland; Brittan Sutphin; G. Devon Trahan; Matthew R.G. Taylor; Lee A. Niswander; Kenneth L. Jones; Erin E. Baschal; Lilian Antunes; Matthew Dobbs; Christina Gurnett; Bruce Appel; Ryan Gray; Nancy Hadley Miller
Idiopathic scoliosis (IS) is a spinal disorder affecting up to 3% of otherwise healthy children. IS has a strong familial genetic component and is believed to be genetically complex due to significant variability in phenotype and heritability. Previous studies identified putative loci and variants possibly contributing to IS susceptibility, including within ECM, cilia and actin networks, but the genetic
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Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood Hum. Mutat. (IF 4.124) Pub Date : 2020-12-21 Takayasu Mori; Motoko Chiga; Takuya Fujimaru; Ryosuke Kawamoto; Shintaro Mandai; Azuma Nanamatsu; Naohiro Nomura; Fumiaki Ando; Koichiro Susa; Eisei Sohara; Tatemitsu Rai; Shinichi Uchida
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Epidemiological and ES cell‐based functional evaluation of BRCA2 variants identified in families with breast cancer Hum. Mutat. (IF 4.124) Pub Date : 2020-12-13 Teresa Sullivan; Eswary Thirthagiri; Chan‐Eng Chong; Stacey Stauffer; Susan Reid; Eileen Southon; Tiara Hassan; Aravind Ravichandran; Eldarina Wijaya; Joanna Lim; Nur Aishah Mohd Taib; Farhana Fadzli; Cheng Har Yip; Mikael Hartman; Jingmei Li; Rob M. van Dam; Susan L. North; Ranabir Das; Douglas F. Easton; Kajal Biswas; Soo‐Hwang Teo; Shyam K. Sharan; ;
The discovery of high‐risk breast cancer susceptibility genes, such as Breast cancer associated gene 1 (BRCA1) and Breast cancer associated gene 2 (BRCA2) has led to accurate identification of individuals for risk management and targeted therapy. The rapid decline in sequencing costs has tremendously increased the number of individuals who are undergoing genetic testing world‐wide. However, given the
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Whole‐exome sequencing of non‐BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer Hum. Mutat. (IF 4.124) Pub Date : 2020-12-16 Paula S. Felicio; Rebeca S. Grasel; Natalia Campacci; Andre E. de Paula; Henrique C. R. Galvão; Giovana T. Torrezan; Cristina S. Sabato; Gabriela C. Fernandes; Cristiano P. Souza; Rodrigo D. Michelli; Carlos E. Andrade; Bruna Durães De Figueiredo Barros; Marcus M. Matsushita; Timothée Revil; Jiannis Ragoussis; Fergus J. Couch; Steven N. Hart; Rui M. Reis; Matias E. Melendez; Patricia N. Tonin; Dirce
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GeneBreaker ‐ Variant simulation to improve the diagnosis of Mendelian rare genetic diseases Hum. Mutat. (IF 4.124) Pub Date : 2020-12-25 Phillip A. Richmond; Tamar V. Av‐Shalom; Oriol Fornes; Bhavi Modi; Alison M. Elliott; Wyeth W. Wasserman
Mendelian rare genetic diseases affect 5‐10% of the population, and with over 5,300 genes responsible for ∼7,000 different diseases, they are challenging to diagnose. The use of whole genome sequencing (WGS) has bolstered the diagnosis rate significantly. Effective use of WGS relies upon the ability to identify the disrupted gene responsible for disease phenotypes. This process involves genomic variant
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV Hum. Mutat. (IF 4.124) Pub Date : 2020-12-10 Virginie G. Peter; Mathieu Quinodoz; Silvia Sadio; Sebastian Held; Márcia Rodrigues; Marta Soares; Ana Berta Sousa; Luisa Coutinho Santos; Markus Damme; Carlo Rivolta
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants Hum. Mutat. (IF 4.124) Pub Date : 2020-12-10 Cristina Fortuno; Kristy Lee; Magali Olivier; Tina Pesaran; Phuong L. Mai; Kelvin C. de Andrade; Laura D. Attardi; Stephanie Crowley; D. Gareth Evans; Bing‐Jian Feng; Ann K. M. Foreman; Megan N. Frone; Robert Huether; Paul A. James; Kelly McGoldrick; Jessica Mester; Bryce A. Seifert; Thomas P. Slavin; Leora Witkowski; Liying Zhang; Sharon E. Plon; Amanda B. Spurdle; Sharon A. Savage;
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Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis Hum. Mutat. (IF 4.124) Pub Date : 2020-12-25
In (Gao et al., 2017), Caixia Xu is a co‐corresponding author with below details. She had been mistakenly listed as a co‐author and we′re correcting the error with release of a corrigendum. Caixia Xu3* 3 Research Centre for Translational Medicine, First Affiliated Hospital, Sun Yat‐Sen University, Guangzhou, China *Correspondence: Caixia Xu, Research Centre for Translational Medicine, First Affiliated
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Cover, Volume 42, Issue 1 Hum. Mutat. (IF 4.124) Pub Date : 2020-12-25 Adrián García‐Recio; Ana Santos‐Gómez; David Soto; Natalia Julia‐Palacios; Àngels García‐Cazorla; Xavier Altafaj; Mireia Olivella
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Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals Hum. Mutat. (IF 4.124) Pub Date : 2020-11-30 Jan Higgins; Raymond Dalgleish; Johan T. den Dunnen; Greg Barsh; Peter J. Freeman; David N. Cooper; Sara Cullinan; Kay E. Davies; Huw Dorkins; Li Gong; Issei Imoto; Teri E. Klein; Bruce Korf; Adya Misra; Mark H. Paalman; Sarah Ratzel; Juergen K. V. Reichardt; Heidi L. Rehm; Katsushi Tokunaga; Karen E. Weck; Garry R. Cutting
Documenting variation in our genomes is important for research and clinical care. Accuracy in the description of DNA variants is therefore essential. To address this issue, the Human Variome Project convened a committee to evaluate the feasibility of requiring authors to verify that all variants submitted for publication complied with a widely accepted standard for description. After a pilot study
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GRIN database: A unified and manually curated repertoire of GRIN variants Hum. Mutat. (IF 4.124) Pub Date : 2020-11-30 Adrián García‐Recio; Ana Santos‐Gómez; David Soto; Natalia Julia‐Palacios; Àngels García‐Cazorla; Xavier Altafaj; Mireia Olivella
Glutamatergic neurotransmission is crucial for brain development, wiring neuronal function, and synaptic plasticity mechanisms. Recent genetic studies showed the existence of autosomal dominant de novo GRIN gene variants associated with GRIN‐related disorders (GRDs), a rare pediatric neurological disorder caused by N‐methyl‐ d‐aspartate receptor (NMDAR) dysfunction. Notwithstanding, GRIN variants identification
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Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 Hum. Mutat. (IF 4.124) Pub Date : 2020-11-10 Guy Helman; Alison G. Compton; Daniella H. Hock; Marzena Walkiewicz; Gemma R. Brett; Lynn Pais; Tiong Y. Tan; Ricardo De Paoli‐Iseppi; Michael B. Clark; John Christodoulou; Susan M. White; David R. Thorburn; David A. Stroud; Zornitza Stark; Cas Simons
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Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus Hum. Mutat. (IF 4.124) Pub Date : 2020-11-10 Aboulfazl Rad; Thore Schade‐Mann; Philipp Gamerdinger; Grigoriy A. Yanus; Björn Schulte; Marcus Müller; Evgeny N. Imyanitov; Saskia Biskup; Hubert Löwenheim; Anke Tropitzsch; Barbara Vona
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Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility Hum. Mutat. (IF 4.124) Pub Date : 2020-11-10 Tong‐Yao Hu; Huan Zhang; Lan‐Lan Meng; Shi‐Min Yuan; Chao‐Feng Tu; Juan Du; Guang‐Xiu Lu; Ge Lin; Hong‐Chuan Nie; Yue‐Qiu Tan
Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole‐exome and Sanger sequencing to identify suspected causative variants in 414 idiopathic participating infertile men with SO or azoospermia. Three novel homozygous truncating variants in ZMYND15 were identified in three of the 219 (1.37%)
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Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses Hum. Mutat. (IF 4.124) Pub Date : 2020-11-01 Yuri Uchiyama; Daisuke Yamaguchi; Kazuhiro Iwama; Satoko Miyatake; Kohei Hamanaka; Naomi Tsuchida; Hiromi Aoi; Yoshiteru Azuma; Toshiyuki Itai; Ken Saida; Hiromi Fukuda; Futoshi Sekiguchi; Tomohiro Sakaguchi; Ming Lei; Sachiko Ohori; Masamune Sakamoto; Mitsuhiro Kato; Takayoshi Koike; Yukitoshi Takahashi; Koichi Tanda; Yuki Hyodo; Rachel S. Honjo; Debora Romeo Bertola; Chong Ae Kim; Masahide Goto;
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De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy Hum. Mutat. (IF 4.124) Pub Date : 2020-11-01 Toshiyuki Itai; Kohei Hamanaka; Kazunori Sasaki; Matias Wagner; Urania Kotzaeridou; Ines Brösse; Markus Ries; Yu Kobayashi; Jun Tohyama; Mitsuhiro Kato; Winnie P. Ong; Hui B. Chew; Kavitha Rethanavelu; Emmanuelle Ranza; Xavier Blanc; Yuri Uchiyama; Naomi Tsuchida; Atsushi Fujita; Yoshiteru Azuma; Eriko Koshimizu; Takeshi Mizuguchi; Atsushi Takata; Noriko Miyake; Hidehisa Takahashi; Etsuko Miyagi; Yoshinori
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A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes Hum. Mutat. (IF 4.124) Pub Date : 2020-11-10 Mourad Wagdy Ali; C. Pawan K. Patro; Jacqueline Jufen Zhu; Christopher H. Dampier; Sarah J. Plummer; Cem Kuscu; Mazhar Adli; Ching Lau; Rose K. Lai; Graham Casey
Genome‐wide association studies (GWAS) have identified single‐nucleotide polymorphisms (SNPs) associated with glioma risk on 20q13.33, but the biological mechanisms underlying this association are unknown. We tested the hypothesis that a functional SNP on 20q13.33 impacted the activity of an enhancer, leading to an altered expression of nearby genes. To identify candidate functional SNPs, we identified
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Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature Hum. Mutat. (IF 4.124) Pub Date : 2020-11-30 Noor U. Ain; Niaz Muhammad; Mehdi Dianatpour; Marta Baroncelli; Muddassar Iqbal; Mohammad A. F. Fard; Ihtisham Bukhari; Sufian Ahmed; Massoumeh Hajipour; Zahra Tabatabaie; Hamidreza Foroutan; Ola Nilsson; Mohammad A. Faghihi; Outi Makitie; Sadaf Naz
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A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy Hum. Mutat. (IF 4.124) Pub Date : 2020-11-30 Elisa Giorgio; Emanuela Pesce; Elisa Pozzi; Elvira Sondo; Marta Ferrero; Cristina Morerio; Giusy Borrelli; Edoardo Della Sala; Martina Lorenzati; Pietro Cortelli; Annalisa Buffo; Nicoletta Pedemonte; Alfredo Brusco
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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening Hum. Mutat. (IF 4.124) Pub Date : 2020-12-08 Douglas O. S. de Faria; Stijn L. M. in ‘t Groen; Marianne Hoogeveen‐Westerveld; Monica Y. Niño; Ans T. van der Ploeg; Atze J. Bergsma; W. W. M. Pim Pijnappel
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Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications Hum. Mutat. (IF 4.124) Pub Date : 2020-12-10 Claudia Castiglioni; François Feillet; Christine Barnerias; Arnaud Wiedemann; Jordi Muchart; Fanny Cortes; Cristina Hernando‐Davalillo; Raquel Montero; Thierry Dupré; Arnaud Bruneel; Nathalie Seta; Sandrine Vuillaumier‐Barrot; Mercedes Serrano
Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon‐associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N‐linked glycosylation. Pathogenic variants in SSR4 cause a congenital disorder of glycosylation: SSR4–congenital disorders of glycosylation (CDG). We describe three SSR4–CDG boys
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Functional and clinical implications of genetic structure in 1686 Italian exomes Hum. Mutat. (IF 4.124) Pub Date : 2020-12-16 Giovanni Birolo; Serena Aneli; Cornelia Di Gaetano; Giovanni Cugliari; Alessia Russo; Alessandra Allione; Elisabetta Casalone; Elisa Giorgio; Elvezia Maria Paraboschi; Diego Ardissino; Stefano Duga; Rosanna Asselta; Giuseppe Matullo
In order to reconstruct the phenotypical and clinical implications of the Italian genetic structure, we thoroughly analyzed a whole‐exome sequencing dataset comprised of 1,686 healthy Italian individuals. We found six previously unreported variants with remarkable frequency differences between Northern and Southern Italy in the HERC2, OR52R1, ADH1B and THBS4 genes. We reported 36 clinically relevant
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The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response Hum. Mutat. (IF 4.124) Pub Date : 2020-11-10 Yue Zhang; Jung‐Young Park; Fan Zhang; Sara H. Olson; Irene Orlow; Yirong Li; Robert C. Kurtz; Marc Ladanyi; Jie Chen; Amanda E. Toland; Liying Zhang; Paul R. Andreassen
PALB2 has been identified as a breast and pancreatic cancer susceptibility gene. Utilizing a targeted sequencing approach, we discovered two novel germline missense PALB2 variants c.191C>T and c.311C>T, encoding p.Ser64Leu and p.Pro104Leu, respectively, in individuals in a pancreatic cancer registry. No missense PALB2 variants from familial pancreatic cancer patients, and few PALB2 variants overall
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Identification of SRSF10 as a regulator of SMN2 ISS‐N1 Hum. Mutat. (IF 4.124) Pub Date : 2020-12-10 Sabrina B. Frederiksen; Lise L. Holm; Martin R. Larsen; Thomas K. Doktor; Henriette S. Andersen; Michelle L. Hastings; Yimin Hua; Adrian R. Krainer; Brage S. Andresen
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Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model Hum. Mutat. (IF 4.124) Pub Date : 2020-11-30 Pooja Biswas; Shyamanga Borooah; Hiroko Matsui; Marina Voronchikhina; Jason Zhou; Qais Zawaydeh; Pongali B. Raghavendra; Henry Ferreyra; S. Amer Riazuddin; Karl Wahlin; Kelly A. Frazer; Radha Ayyagari
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Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy Hum. Mutat. (IF 4.124) Pub Date : 2020-12-01 Teresa Campbell; Xiaoting Lou; Jesse Slone; Jenice Brown; Meghan Bromwell; Jie Liu; Renkui Bai; Katrina Haude; Amanda Balog; Hong Cui; Weiwei Zou; Li Yang; Ali Al‐Beshri; Taosheng Huang
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New variants and in silico analyses in GRK1 associated Oguchi disease Hum. Mutat. (IF 4.124) Pub Date : 2020-11-30 James A. Poulter; Molly S. C. Gravett; Rachel L. Taylor; Kaoru Fujinami; Julie De Zaeytijd; James Bellingham; Atta Ur Rehman; Takaaki Hayashi; Mineo Kondo; Abdur Rehman; Muhammad Ansar; Dan Donnelly; Carmel Toomes; Manir Ali; ; Elfride De Baere; Bart P. Leroy; Nigel P. Davies; Robert H. Henderson; Andrew R. Webster; Carlo Rivolta; Omar A. Mahroo; Gavin Arno; Graeme C. M. Black; Martin McKibbin; Sarah
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A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction Hum. Mutat. (IF 4.124) Pub Date : 2020-11-10 Liesbeth T. M. Wintjes; Maina Kava; Frans A. van den Brandt; Mariël A. M. van den Brand; Oksana Lapina; Yngve T. Bliksrud; Mari A. Kulseth; Silja S. Amundsen; Terje R. Selberg; Marion Ybema‐Antoine; Omar A. Z. Tutakhel; Lawrence Greed; David R. Thorburn; Trine Tangeraas; Shanti Balasubramaniam; Richard J. T. Rodenburg
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Cover, Volume 41, Issue 12 Hum. Mutat. (IF 4.124) Pub Date : 2020-11-27 Momoko Nagai‐Tanima; Sungkook Hong; Ping Hu; Blake Carrington; Raman Sood; Erich Roessler; Maximilian Muenke
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SMN1 copy‐number and sequence variant analysis from next‐generation sequencing data Hum. Mutat. (IF 4.124) Pub Date : 2020-10-14 Daniel Lopez‐Lopez; Carlos Loucera; Rosario Carmona; Virginia Aquino; Josefa Salgado; Sara Pasalodos; María Miranda; Ángel Alonso; Joaquín Dopazo
Spinal muscular atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1, while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2, and the complexity of the SMN locus makes the estimation of the SMN1 copy‐number by next‐generation sequencing
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FREQMAX provides an alternative approach for determining high‐resolution allele frequency thresholds in carrier screening Hum. Mutat. (IF 4.124) Pub Date : 2020-10-08 Ryan L. Subaran; William C. L. Stewart
As whole‐genome data become available for increasing numbers of individuals across diverse populations, the list of genomic variants of unknown significance (VOUS) continues to grow. One powerful tool in VOUS interpretation is determining whether an allele is too common to be considered pathogenic. As genetic and epidemiological parameters vary across disease models, so too does the pathogenic allele
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Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy Hum. Mutat. (IF 4.124) Pub Date : 2020-11-01 Hui Liu; Anna‐Gaëlle Giguet‐Valard; Thomas Simonet; Emmanuelle Szenker‐Ravi; Laetitia Lambert; Catherine Vincent‐Delorme; Sophie Scheidecker; Mélanie Fradin; Fanny Morice‐Picard; Sophie Naudion; Viorica Ciorna‐Monferrato; Estelle Colin; Florence Fellmann; Sophie Blesson; Pierre‐Simon Jouk; Christine Francannet; Florence Petit; Sébastien Moutton; Daphné Lehalle; Nicolas Chassaing; Loubna El Zein; Anne
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Hum. Mutat. (IF 4.124) Pub Date : 2020-11-01 Daniel Epting; Lokuliyange D. S. Senaratne; Elisabeth Ott; Asbjørn Holmgren; Dulika Sumathipala; Selma M. Larsen; Julia Wallmeier; Diana Bracht; Kari‐Anne M. Frikstad; Suzanne Crowley; Alma Sikiric; Tuva Barøy; Barbara Käsmann‐Kellner; Eva Decker; Christian Decker; Nadine Bachmann; Sebastian Patzke; Ian G. Phelps; Nicholas Katsanis; Rachel Giles; Miriam Schmidts; Manuela Zucknick; Soeren S. Lienkamp;
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar ataxia, molar tooth sign on magnetic resonance imaging scans, and polydactyly. We identified biallelic loss‐of‐function (LOF) variants
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Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome Hum. Mutat. (IF 4.124) Pub Date : 2020-11-01 Charles M. Pearman; Nathan C. Denham; Robert W. Mills; Wern Y. Ding; Simon S. Modi; Mark C. S. Hall; Derick M. Todd; Saagar Mahida
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A commentary on “A Vietnamese human genetic variation database” Hum. Mutat. (IF 4.124) Pub Date : 2020-10-27 Adam F. Johnson; Linh T. Ngo
This letter to the editor (Johnson & Ngo, 2020) was published in Human Mutation volume 41, issue 8 along with a response letter, but the order of articles in the Table of Contents (TOC) was incorrect. This letter should have been listed immediately before the response letter to the editor by Le et al. (2020) Also, co‐author Linh T. Ngo of the present Letter is not currently working in academia, so
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Erratum Hum. Mutat. (IF 4.124) Pub Date : 2020-10-27
This response letter to the editor [Le et al., 2020] was published in Human Mutation volume 41, issue 8 along with the originating letter, but the order of articles in the Table of Contents (TOC) was incorrect. This response letter should have been listed immediately following the original letter to the editor by Johnson and Ngo (2020). Also, the reference citation in this letter to Johnson and Ngo
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Cover, Volume 41, Issue 11 Hum. Mutat. (IF 4.124) Pub Date : 2020-10-28 Aparna S. Chivukula; Mariia Suslova; Daniel Kortzak; Peter Kovermann; Christoph Fahlke
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Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-09 Ankita Narang,Bharathram Uppilli,Asokachandran Vivekanand,Salwa Naushin,Arti Yadav,Khushboo Singhal,Uzma Shamim,Pooja Sharma,Sana Zahra,Aradhana Mathur,Malika Seth,Shaista Parveen,Archana Vats,Sara Hillman,Padma Dolma,Binuja Varma,Vandana Jain,,Bhavana Prasher,Shantanu Sengupta,Mitali Mukerji,Mohammed Faruq
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A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-15 Ibrahim Almazni,Rachel J Stapley,Abdullah O Khan,Neil V Morgan,
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Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. Hum. Mutat. (IF 4.124) Pub Date : 2020-08-21 Lisa Roberts,Stephanie Julius,Shrinav Dawlat,Safiye Yildiz,George Rebello,Surita Meldau,Komala Pillay,Alina Esterhuizen,Alvera Vorster,Gameda Benefeld,Jorge da Rocha,Peter Beighton,Sean L Sellars,Kebashni Thandrayen,John M Pettifor,Raj S Ramesar
More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole‐exome sequencing of DNA from two affected siblings (and their carrier parents), we identified the novel RRM2B c.786G>T variant as a plausible disease‐causing mutation. The RRM2B gene is involved in mitochondrial integrity
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Novel genotype-phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss. Hum. Mutat. (IF 4.124) Pub Date : 2020-08-25 Sang-Yeon Lee,Jin Hee Han,Marge Carandang,Min Young Kim,Bonggi Kim,Nayoung Yi,Jinho Kim,Bong Jik Kim,Doo-Yi Oh,Ja-Won Koo,Jun Ho Lee,Seung-Ha Oh,Byung Yoon Choi
LMX1A, encoding the LIM homeobox transcription factor, is essential for inner ear development. Despite previous reports of three human LMX1A variants with nonsyndromic hearing loss (NSHL) in the literature, functional characterization of these variants has never been performed. Encouraged by identification of a de novo, heterozygous, missense variant (c.595A > G; p.Arg199Gly) located in the homeodomain
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Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-09 Lauren S Akesson,Adam Bournazos,Andrew Fennell,Emma I Krzesinski,Kenneth Tan,Amanda Springer,Katherine Rose,Ilias Goranitis,David Francis,Crystle Lee,Fathimath Faiz,Mark R Davis,John Christodoulou,Sebastian Lunke,Zornitza Stark,Matthew F Hunter,Sandra T Cooper
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Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Hum. Mutat. (IF 4.124) Pub Date : 2020-08-25 Katherine C MacKenzie,Bianca M de Graaf,Andreas Syrimis,Yuying Zhao,Erwin Brosens,Grazia M S Mancini,Rachel Schot,Dicky Halley,Martina Wilke,Arve Vøllo,Frances Flinter,Andrew Green,Sahar Mansour,Jacek Pilch,Zornitza Stark,Eleni Zamba-Papanicolaou,Violetta Christophidou-Anastasiadou,Robert M W Hofstra,Jan D H Jongbloed,Nayia Nicolaou,George A Tanteles,Alice S Brooks,Maria M Alves
Goldberg–Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors may play a role. To date, 37 patients with GOSHS have been reported. Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our
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Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20. Hum. Mutat. (IF 4.124) Pub Date : 2020-08-25 Anna Gaertner,Baerbel Klauke,Elina Felski,Astrid Kassner,Andreas Brodehl,Désirée Gerdes,Caroline Stanasiuk,Hans Ebbinghaus,Uwe Schulz,Karl-Otto Dubowy,Jens Tiesmeier,Kai-Thorsten Laser,Hendrik Bante,Leonard Bergau,Philipp Sommer,Henrik Fox,Michiel Morshuis,Jan Gummert,Hendrik Milting
Mutations in RBM20 encoding the RNA‐binding motif protein 20 (RBM20) are associated with an early onset and clinically severe forms of cardiomyopathies. Transcriptome analyses revealed RBM20 as an important regulator of cardiac alternative splicing. RBM20 mutations are especially localized in exons 9 and 11 including the highly conserved arginine and serine‐rich domain (RS domain). Here, we investigated
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Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration. Hum. Mutat. (IF 4.124) Pub Date : 2020-08-26 Susan B Curtis,Laurie L Molday,Fabian A Garces,Robert S Molday
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Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-09 Liutao Zhang,Miao Yu,Sing-Wai Wong,Hong Qu,Tao Cai,Yang Liu,Haochen Liu,Zhuangzhuang Fan,Jinglei Zheng,Yongsheng Zhou,Hailan Feng,Dong Han
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Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-09 Brett M Cassidy,Sammy Zino,Karianne Fjeld,Anders Molven,Mark E Lowe,Xunjun Xiao
Genetic variants contribute to the risk of chronic pancreatitis (CP) in adults and children. The risk variant CEL‐HYB1, a recombinant hybrid allele of CEL and its neighboring pseudogene (CELP), encodes a pathogenic variant of the pancreatic digestive enzyme carboxyl ester lipase (CEL). We previously identified combinations of two non‐synonymous SNPs, c.1463T>C (p. Ile488Thr) and c.1643C>T (p. Thr548Ile)
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Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-09 Maria Pettersson,Christopher M Grochowski,Josephine Wincent,Jesper Eisfeldt,Amy M Breman,Sau Wai Cheung,Ana Cristina Victorino Krepischi,Carla Rosenberg,James R Lupski,Jesper Ottosson,Lovisa Lovmar,Jelena Gacic,Elisabeth Syk Lundberg,Daniel Nilsson,Claudia M B Carvalho,Anna Lindstrand
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Overcoming Presynaptic Effects of VAMP2 Mutations with 4-Aminopyridine Treatment. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-09 Roxanne L Simmons,Haiyan Li,Baris Alten,Magda S Santos,Ruiji Jiang,Brianna Paul,Sanam J Lalani,Audrey Cortesi,Kendall Parks,Nitin Khandelwal,Bethany Smith-Packard,Malay A Phoong,Michael Chez,Heather Fisher,Angela E Scheuerle,Marwan Shinawi,Shaun A Hussain,Ege T Kavalali,Elliott H Sherr,Susan M Voglmaier
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USF3 modulates osteoporosis risk by targeting WNT16, RANKL, RUNX2, and two GWAS lead SNPs rs2908007 and rs4531631 Hum. Mutat. (IF 4.124) Pub Date : 2020-10-14 Weiyuan Ye; Ya Wang; Sasa Hou; Bing Mei; Xinhong Liu; Han Huang; Qian Zhou; Yajing Niu; Yuanyuan Chen; Manling Zhang; Qingyang Huang
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Cover, Volume 41, Issue 10 Hum. Mutat. (IF 4.124) Pub Date : 2020-09-28 Simranpreet Kaur; Nicole J. Van Bergen; Kristen J. Verhey; Cameron J. Nowell; Breane Budaitis; Yang Yue; Carolyn Ellaway; Nicola Brunetti‐Pierri; Gerarda Cappuccio; Irene Bruno; Lia Boyle; Vincenzo Nigro; Annalaura Torella; Tony Roscioli; Mark J. Cowley; Sean Massey; Rhea Sonawane; Matthew D. Burton; Bitten Schonewolf‐Greulich; Zeynep Tümer; Wendy K. Chung; Wendy A. Gold; John Christodoulou
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Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines. Hum. Mutat. (IF 4.124) Pub Date : 2020-07-27 Sean V Tavtigian,Steven M Harrison,Kenneth M Boucher,Leslie G Biesecker
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Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements. Hum. Mutat. (IF 4.124) Pub Date : 2020-08-02 Hélène Tubeuf,Camille Charbonnier,Omar Soukarieh,André Blavier,Arnaud Lefebvre,Hélène Dauchel,Thierry Frebourg,Pascaline Gaildrat,Alexandra Martins
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Retracted: Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy Hum. Mutat. (IF 4.124) Pub Date : 2020-08-25
Retraction: Montagna G., Di Biase A., Cappa M., Melone M. A., Piantadosi C., Colabianchi D., Patrono C., Attori L., Cannelli N., Cotrufo R., & Salvati S. (2005). Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy. Human Mutation, 25(2), 222. (https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.9303). The above article, published
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Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-16 Sungkook Hong,Ping Hu,Jae Hee Jang,Blake Carrington,Raman Sood,Seth I Berger,Erich Roessler,Maximilian Muenke
Genetic variation in the highly conserved Sonic Hedgehog (SHH) gene is one of the most common genetic causes for the malformations of the brain and face in humans described as the holoprosencephaly clinical spectrum. However, only a minor fraction of known SHH variants have been experimentally proven to lead to abnormal function. Employing a phenotypic rescue assay with synthetic human messenger RNA
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Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-15 Ximena Montenegro-Garreaud,Adam W Hansen,Michael M Khayat,Varuna Chander,Christopher M Grochowski,Yunyun Jiang,He Li,Tadahiro Mitani,Elena Kessler,Joy Jayaseelan,Hua Shen,Alper Gezdirici,Davut Pehlivan,Qingchang Meng,Jill A Rosenfeld,Shalini N Jhangiani,Suneeta Madan-Khetarpal,Daryl A Scott,Hugo Abarca-Barriga,Milana Trubnykova,Marie-Claude Gingras,Donna M Muzny,Jennifer E Posey,Pengfei Liu,James R
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Rescue of common exon skipping mutations in Cystic Fibrosis with modified U1 snRNAs. Hum. Mutat. (IF 4.124) Pub Date : 2020-09-15 Donegà Stefano,Malgorzata Rogalska,Pianigiani Giulia,Igreja Susana,Amaral Duarte Margarida,Pagani Franco
In cystic fibrosis (CF), the correction of splicing defects represents an interesting therapeutic approach to restore normal CFTR function. In this study, we focused on 10 common mutations/variants 711+3A>G/C, 711+5G>A, TG13T3, TG13T5, TG12T5, 1863C>T, 1898+3A>G, 2789+5G>A, and 3120G>A that induce skipping of the corresponding CFTR exons 5, 10, 13, 16, and 18. To rescue the splicing defects we tested