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

Sara Salime (1, 2) , Zied Riahi (3, 4) , Soukaina Elrharchi (1, 2) , Lamiae Elkhattabi (1) , Hicham Charoute (1) , Halima Nahili (1) , Hassan Rouba (1) , Mostafa Kabine (2) , Crystel Bonnet (3, 4, 5) , Christine Petit (3, 4, 5, 6) , Abdelhamid Barakat (1)

1 Institut Pasteur du Maroc
2 UH2MC - Université Hassan II [Casablanca]
3 Génétique et Physiologie de l'Audition
4 Institut de la Vision
5 UPMC - Université Pierre et Marie Curie - Paris 6
6 Collège de France - Chaire Génétique et physiologie cellulaire

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.

Mots clés: Hearing loss; Morocco; Myopia; SLITRK6

Domaines: Sciences du Vivant [q-bio]

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, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩. ⟨pasteur-03219641⟩