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A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant
Molecular Syndromology ( IF 1.1 ) Pub Date : 2021-07-19 , DOI: 10.1159/000515928
Ummuhan Oncul 1 , Engin Kose 1 , Fatma Tuba Eminoglu 1
Affiliation  

Mitochondrial DNA depletion syndromes (MDDS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA maintenance. Among these, FBXL4 gene variants result in encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13), which commonly presents as a combination of failure to thrive, neurodevelopmental delays, encephalopathy, hypotonia, a pattern of mild facial dysmorphisms, and persistent lactic acidosis. To date, 53 pathogenic FBXL4 variants and 100 cases have been described in the literature. In the present case report, we report on a 4.5-year-old boy with MTDPS13 and a novel variant. The patient had a history of antenatal hydrocephalus, severe developmental delay and mental motor retardation with psychomotor delay, severe hypotonia, mild left ventricular hypertrophic cardiomyopathy, mild facial dysmorphism, and elevated lactate levels. Symptoms suggested mitochondrial myopathy; subsequently, whole-exome sequencing was performed and a novel homozygous variant FBXL4 (NM_012160.4): c.486T#x3e;G (p.Tyr162Ter) was identified. While most of the patients with FBLX4 gene mutation have severe clinical manifestation and die at a very young age, clinical progress of our case was milder than previously reported. MDDS are very rare and can present with many different clinical signs and symptoms. In this report, we identified a novel pathogenic variant in the FBXL4 gene. This report shows that patients with FBLX4 gene mutations may present with a milder clinical phenotype than previously reported.
Mol Syndromol


中文翻译:

具有新型 FBXL4 变体的 13 型线粒体 DNA 耗竭综合征的轻度表型

线粒体 DNA 缺失综合征 (MDDS) 是一组罕见的遗传性疾病,由参与线粒体 DNA 维持的多个基因缺陷引起。其中,FBXL4基因变异导致脑肌病性 mtDNA 耗竭综合征 13 (MTDPS13),该综合征通常表现为发育迟缓、神经发育迟缓、脑病、肌张力减退、轻度面部畸形和持续性乳酸性酸中毒的组合。迄今为止,文献中已描述了53 种致病性FBXL4变异和 100 个病例。在本病例报告中,我们报告了一名患有 MTDPS13 和新型变异的 4.5 岁男孩。患者有产前脑积水病史、严重发育迟缓和精神运动迟缓、严重肌张力低下、轻度左心室肥厚性心肌病、轻度面部畸形和乳酸水平升高。症状提示线粒体肌病;随后,进行全外显子组测序,并鉴定出新的纯合变体FBXL4 (NM_012160.4): c.486T#x3e;G (p.Tyr162Ter)。虽然大多数FBLX4基因突变患者临床表现严重,并且在很小的时候就死亡,但本病例的临床进展比之前报道的要温和。MDDS 非常罕见,并且可能出现许多不同的临床体征和症状。在本报告中,我们在FBXL4基因中发现了一种新的致病变异。该报告显示,FBLX4基因突变患者的临床表型可能比之前报道的更温和。
摩尔综合症
更新日期:2021-07-19
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