一个摩洛哥家庭中与x连锁耳聋相关的AIFM1基因新突变

IF 1.1 4区生物学 Q4 GENETICS & HEREDITY Human Heredity Pub Date : 2020-01-01 Epub Date: 2021-01-22 DOI:10.1159/000512712

Soukaina Elrharchi, Zied Riahi, Sara Salime, Hicham Charoute, Lamiae Elkhattabi, Redouane Boulouiz, Mostafa Kabine, Crystel Bonnet, Christine Petit, Abdelhamid Barakat

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引用次数: 7

摘要

简介:听神经病变是耳蜗内外毛细胞功能正常，但内毛细胞和/或听神经功能受损的一种听力障碍。这是一种异质性疾病，可能有先天性或后天的原因。方法:通过全外显子组测序，我们在x连锁的AIFM1基因中发现了一个疾病分离突变，该突变编码凋亡诱导因子线粒体相关1。结果:c.1045A>G;使用不同的生物信息学工具预测AIFM1蛋白的p.(Ser349Gly)突变。家谱分析结果与x连锁显性遗传一致。讨论/结论:据我们所知，这是首次在患有x连锁听神经病变的摩洛哥患者中发现AIFM1基因突变的研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.

Introduction: Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital or acquired causes.

Methods: We found a disease-segregating mutation in the X-linked AIFM1 gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion-associated 1.

Results: The impact of the c.1045A>G; p.(Ser349Gly) mutation on the AIFM1 protein was predicted using different bioinformatics tools. The pedigree analysis in the examined family was consistent with X-linked dominant inheritance.

Discussion/conclusion: To our knowledge, this is the first study that identifies a mutation in the AIFM1 gene in Moroccan patients suffering from X-linked auditory neuropathy.

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来源期刊

Human Heredity 生物-遗传学

CiteScore

2.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Gathering original research reports and short communications from all over the world, ''Human Heredity'' is devoted to methodological and applied research on the genetics of human populations, association and linkage analysis, genetic mechanisms of disease, and new methods for statistical genetics, for example, analysis of rare variants and results from next generation sequencing. The value of this information to many branches of medicine is shown by the number of citations the journal receives in fields ranging from immunology and hematology to epidemiology and public health planning, and the fact that at least 50% of all ''Human Heredity'' papers are still cited more than 8 years after publication (according to ISI Journal Citation Reports). Special issues on methodological topics (such as ‘Consanguinity and Genomics’ in 2014; ‘Analyzing Rare Variants in Complex Diseases’ in 2012) or reviews of advances in particular fields (‘Genetic Diversity in European Populations: Evolutionary Evidence and Medical Implications’ in 2014; ‘Genes and the Environment in Obesity’ in 2013) are published every year. Renowned experts in the field are invited to contribute to these special issues.