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

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. •We reported here for the first time a Moroccan family affected by DFNMYP syndrome.•This is due to mutation in SLIRTRK6 gene.•Direct DNA sequence analysis of the coding exons of the SLITRK6 gene was performed.•The c.696delG mutation was identified at homozygous state in the SLITRK6 gene.