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

Abstract : 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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https://hal-pasteur.archives-ouvertes.fr/pasteur-03219602
Contributor : Crystel Bonnet <>
Submitted on : Thursday, May 6, 2021 - 3:13:09 PM
Last modification on : Wednesday, May 12, 2021 - 7:57:16 PM

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Soukaina Elrharchi, Zied Riahi, Sara Salime, Hicham Charoute, Lamiae Elkhattabi, et al.. Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family. Human Heredity, Karger, In press, 85 (1), pp.35-39. ⟨10.1159/000512712⟩. ⟨pasteur-03219602⟩

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