slc25a42相关线粒体疾病:新病例及文献综述

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Areej Alatawi, Omamah Alshehri, Aminah Alessa, Fuad Al Mutairi, Norah AlSaleh, Wafaa Eyaid, Ali Alsamri, Eissa Faqeih, Aziza Mushiba, Mohammed Saleh, Maha Alotaibi, Brahim Tabarki, Yaser I Aljadhai, Panagiotis Katsonis, Olivier Lichtarge, Fowzan S Alkuraya, Majid Alfadhel, Mohammed Almannai
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引用次数: 0

摘要

SLC25A42编码一个线粒体载体,负责将CoA导入线粒体。SLC25A42的双等位致病变异与最近描述的以不同严重程度的脑肌病为特征的线粒体疾病有关。迄今为止,已报告来自16个不同家庭的24名患者。大多数是阿拉伯后裔,他们携带SLC25A42的创始变体(c.871A>G, p.Asn291Asp)。在本报告中,我们介绍了来自19个不相关家庭的另外23例患者及其临床、放射学和分子检查结果。我们再次表明,slc25a42相关的线粒体疾病与极其不同的严重程度相关。一些表现轻微的个体可能无法被识别,而其他个体则容易出现代谢性失代偿,伴有神经退化和不可逆的神经损伤,因此早期诊断很重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.

SLC25A42 encodes a mitochondrial carrier that is responsible for the import of CoA into mitochondria. Biallelic pathogenic variants in SLC25A42 have been associated with a recently described mitochondrial disorder characterized by encephalomyopathy with variable severity. To date, 24 affected individuals from 16 different families have been reported. Most are of Arab descent who harbor the founder variant in SLC25A42 (c.871A>G, p.Asn291Asp). In this report, we present 23 additional individuals from 19 unrelated families and their clinical, radiological, and molecular findings. We show again that SLC25A42-related mitochondrial disorder is associated with extremely variable severity. Some individuals with mild presentation may be unrecognized, while others are prone to metabolic decompensations with neuro-regression and irreversible neurological insult, making early diagnosis important.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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