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

xloma.fota.13 shared this article with you from Inoreader A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. Via International journal of pediatric otorhinolaryngology,http://goo.gl/4YdRhz Related Articles A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. Int J Pediatr Otorhinolaryngol. 2020 Nov 02;:110481 Authors: Amalou G, Bonnet C, Riahi Z, Bouzidi A, Elrharchi S, Bousfiha A, Charif M, Kandil M, Lenaers G, Petit C, Barakat A 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. PMID: 33234333 [PubMed - as supplied by publisher] View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.