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

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.
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https://hal-pasteur.archives-ouvertes.fr/pasteur-03219641
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Submitted on : Thursday, May 6, 2021 - 3:29:14 PM
Last modification on : Tuesday, October 19, 2021 - 10:29:32 PM

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Sara Salime, Zied Riahi, Soukaina Elrharchi, Lamiae Elkhattabi, Hicham Charoute, et al.. A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family. Gene, Elsevier, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩. ⟨pasteur-03219641⟩

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