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- Title
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
- Authors
Elrharchi, Soukaina; Riahi, Zied; Salime, Sara; Charoute, Hicham; Elkhattabi, Lamiae; Boulouiz, Redouane; Kabine, Mostafa; Bonnet, Crystel; Petit, Christine; Barakat, Abdelhamid
- 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.
- Publication
Human Heredity, 2020, Vol 85, Issue 1, p35
- ISSN
0001-5652
- Publication type
Article
- DOI
10.1159/000512712