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

Sara Salime; Zied Riahi; Soukaina Elrharchi; Lamiae Elkhattabi; Hicham Charoute; Halima Nahili; Hassan Rouba; Mostafa Kabine; Crystel Bonnet; Christine Petit; Abdelhamid Barakat

doi:10.1016/j.gene.2018.03.042

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

Gene. 2018 Jun 15:659:89-92. doi: 10.1016/j.gene.2018.03.042. Epub 2018 Mar 15.

Authors

Affiliations

¹ Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco; Laboratoire de santé et environnement, Faculté des sciences Ain Chock, Université Hassan II, Casablanca, Morocco.
² INSERM UMRS1120, Institut de la Vision, Paris, France.
³ Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.
⁴ Laboratoire de santé et environnement, Faculté des sciences Ain Chock, Université Hassan II, Casablanca, Morocco.
⁵ INSERM UMRS1120, Institut de la Vision, Paris, France; UPMC-Sorbonnes Universités Paris VI, Paris, France.
⁶ INSERM UMRS1120, Institut de la Vision, Paris, France; UPMC-Sorbonnes Universités Paris VI, Paris, France; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France; Collège de France, Paris, France.
⁷ Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address: hamid.barakat@pasteur.ma.

PMID: 29551497
DOI: 10.1016/j.gene.2018.03.042

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.

Keywords: Hearing loss; Morocco; Myopia; SLITRK6.

MeSH terms

Consanguinity
Deafness / genetics*
Exons
Female
Humans
Male
Membrane Proteins / genetics*
Morocco
Mutation, Missense*
Myopia / genetics*
Pedigree

Substances

Membrane Proteins
Slitrk6 protein, human