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

Soukaina Elrharchi; Zied Riahi; Sara Salime; Hicham Charoute; Lamiae Elkhattabi; Redouane Boulouiz; Mostafa Kabine; Crystel Bonnet; Christine Petit; Abdelhamid Barakat

doi:10.1159/000512712

Journal articles

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

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 ^{5, 3, 4, 6} Abdelhamid Barakat ^{1, *}

* Corresponding author

1 Institut Pasteur du Maroc

2 UH2MC - Université Hassan II [Casablanca]

3 Institut de la Vision

4 UPMC - Université Pierre et Marie Curie - Paris 6

5 Génétique et Physiologie de l'Audition

6 CdF (institution) - Collège de France

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

Keywords : AIFM1 gene Morocco Mutation Whole-exome sequencing X-linked deafness

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

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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

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

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

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