A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family
Domaine:
healthcareType de record:
paper
Créateur:
SalRiaElrElk
Éditeur:
InsUniGénIns
Éditeur:
CCSD
Hôte:
International audience
Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia. Autosomal recessive non-syndromic hearing loss is one of the most prevalent human genetic sensorineural defects. Myopia is by far the most common human eye disorder that is known to have a clear heritable component. The analysis of the two exons of SLITRK6 gene in a Moroccan family allowed us to identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations.
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