A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family - Institut Pasteur Access content directly
Journal Articles International Journal of Pediatric Otorhinolaryngology Year : 2021

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

Abstract

Adhesion glycoproteins are implicated in the pathophysiology of hearing loss, the most frequent inherited sensory disorder, affecting 1 in 1000 new-borns. Exome sequencing of a consanguineous Moroccan patient with mild hearing loss identified for the first time in a North African family a single homozygous mutation c.72delA in MPZL2 gene, encoding the Myelin Protein Zero-Like 2, reported as causing deafness in two other populations. Variable tandem repeat genotyping of this family revealed that the c.72delA MPZL2 allele shared a common haplotype with Turkish and Dutch families. These results confirm the pathogenicity of this MPZL2 mutation in recessive mild to moderate non-syndromic deafness.
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pasteur-03215242 , version 1 (03-05-2021)

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Ghita Amalou, Crystel Bonnet, Zied Riahi, Aymane Bouzidi, Soukaina Elrharchi, et al.. A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩. ⟨pasteur-03215242⟩
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