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

Ghita Amalou (1, 2, 3) , Crystel Bonnet (4) , Zied Riahi (5) , Aymane Bouzidi (1, 2, 3) , Soukaina Elrharchi (1) , Amale Bousfiha (1, 6) , Majida Charif (7, 2) , Mostafa Kandil (3) , Guy Lenaers (2) , Christine Petit (4, 8, 9) , Abdelhamid Barakat (1)

1 Institut Pasteur du Maroc
2 MITOVASC - MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale
3 UCD - Université Chouaib Doukkali
4 Génétique et Physiologie de l'Audition
5 ED 515 - Complexité du vivant
6 Faculté des Sciences Ben M'sik [Casablanca]
7 Université Mohamed 1 Oujda MAROC
8 IDA - Institut de l'Audition [Paris]
9 CdF (institution) - Collège de France

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.

Keywords: MPZL2; Morocco; Non syndromic hearing loss

Domains: Life Sciences [q-bio]

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⟩