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

Ghita Amalou; Crystel Bonnet; Zied Riahi; Aymane Bouzidi; Soukaina Elrharchi; Amale Bousfiha; Majida Charif; Mostafa Kandil; Guy Lenaers; Christine Petit; Abdelhamid Barakat

doi:10.1016/j.ijporl.2020.110481

Journal articles

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, *}

* Corresponding author

1 Institut Pasteur du Maroc

2 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

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.

Keywords : MPZL2 Morocco Non syndromic hearing loss

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Complete list of metadata

https://hal-pasteur.archives-ouvertes.fr/pasteur-03215242
Contributor : Crystel Bonnet Connect in order to contact the contributor
Submitted on : Monday, May 3, 2021 - 11:25:32 AM
Last modification on : Friday, December 3, 2021 - 11:43:32 AM

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

Identifiers

Collections

Citation

Export

Metrics

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

Identifiers

Collections

Citation

Export

Share

Metrics