A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. (January 2021)

• Record Type: Journal Article
• Authors: Amalou, Ghita; Bonnet, Crystel; Riahi, Zied; Bouzidi, Aymane; Elrharchi, Soukaina; Bousfiha, Amale; Charif, Majida; Kandil, Mostafa; Lenaers, Guy; Petit, Christine; Barakat, Abdelhamid
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 140(2021)
• Publication Date: 2021-01
• Subjects: MPZL2 -- Non syndromic hearing loss -- Morocco; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2020.110481
• Languages: English
• ISSNs: 0165-5876

Abstract

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.