Article
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
International journal of pediatric otorhinolaryngology - 1 Jan 2021
Amalou Ghita, Bonnet Crystel, Riahi Zied, Bouzidi Aymane, Elrharchi Soukaina, Bousfiha Amale, Charif Majida, Kandil Mostafa, Lenaers Guy, Petit Christine, Barakat Abdelhamid
Abstract excerpt
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...
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