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Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
Human Heredity ( IF 1.8 ) Pub Date : 2021-01-22 , DOI: 10.1159/000512712
Soukaina Elrharchi 1, 2 , Zied Riahi 3, 4 , Sara Salime 1, 2 , Hicham Charoute 1 , Lamiae Elkhattabi 1 , Redouane Boulouiz 1 , Mostafa Kabine 2 , Crystel Bonnet 3, 4 , Christine Petit 3, 4, 5, 6 , Abdelhamid Barakat 7
Affiliation  

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#x3e;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.
Hum Hered


中文翻译:

AIFM1 基因的新突变与摩洛哥家庭的 X 连锁耳聋相关

简介:听神经病是一种听力障碍,耳蜗内的外毛细胞功能正常,但内毛细胞和/或听神经功能被破坏。它是一种异质性疾病,可能有先天性或后天性原因。方法:我们通过全外显子组测序发现X连锁AIFM1基因中的疾病分离突变,编码凋亡诱导因子线粒体相关1。结果: c.1045A#x3e;G; 使用不同的生物信息学工具预测 AIFM1 蛋白上的 p.(Ser349Gly) 突变。受检家系的谱系分析与 X 连锁显性遗传一致。讨论/结论:据我们所知,这是第一项在患有 X 连锁听神经病的摩洛哥患者中发现AIFM1基因突变的研究。
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更新日期:2021-01-22
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