A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
Int J Pediatr Otorhinolaryngol
; 140: 110481, 2021 Jan.
Article
em En
| MEDLINE
| ID: mdl-33234333
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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Ano de publicação:
2021
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Article