A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

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A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.

Gene. 2018 Mar 15;:

Authors: Salime S, Riahi Z, Elrharchi S, Elkhattabi L, Charoute H, Nahili H, Rouba H, Kabine M, Bonnet C, Petit C, Barakat A

Abstract
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.

PMID: 29551497 [PubMed - as supplied by publisher]

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