AIFM1 基因中的新型突变与摩洛哥一个家系的 X 连锁耳聋相关。
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
机构信息
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Laboratoire de Santé et Environnement, Faculté des sciences Ain Chock, Université Hassan II, Casablanca, Morocco.
出版信息
Hum Hered. 2020;85(1):35-39. doi: 10.1159/000512712. Epub 2021 Jan 22.
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.
简介
听觉神经病是一种听力障碍，其中耳蜗内的外毛细胞功能正常，但内毛细胞和/或听神经功能受到干扰。它是一种异质性疾病，既有先天性原因，也有后天性原因。
方法
我们通过全外显子组测序发现了一个与 X 连锁 AIFM1 基因相关的疾病分离突变，该基因编码凋亡诱导因子线粒体相关 1。
结果
使用不同的生物信息学工具预测了 c.1045A>G;p.(Ser349Gly)突变对 AIFM1 蛋白的影响。所检查家族的系谱分析与 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 连锁听觉神经病的摩洛哥患者中发现 AIFM1 基因突变的研究。
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