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

Abstract

<b><i>Introduction:</i></b> 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. <b><i>Methods:</i></b> We found a disease-segregating mutation in the X-linked <i>AIFM1</i> gene through whole-exome sequencing, encoding the apoptosis-inducing factor mitochondrion-associated 1. <b><i>Results:</i></b> 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. <b><i>Discussion/Conclusion:</i></b> To our knowledge, this is the first study that identifies a mutation in the <i>AIFM1</i> gene in Moroccan patients suffering from X-linked auditory neuropathy.