Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family |
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| Authors: | Amale Bousfiha Amina Bakhchane Hicham Charoute Mustapha Detsouli Hassan Rouba Majida Charif Guy Lenaers Abdelhamid Barakat |
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| Affiliation: | 1.Human Molecular Genetics Laboratory,Institut Pasteur du Maroc,Casablanca,Morocco;2.Laboratoire des Sciences Biologiques, Filière Technique de Santé,Institution Supérieure des Professions Infirmières et Techniques de Santé (ISPITS),Casablanca,Morocco;3.PREMMI, Mitochondrial Medicine Research Centre,Université d’Angers, CHU Bat IRIS/IBS,Angers Cedex 9,France |
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| Abstract: | In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. Whole-exome sequencing was performed to study the genetic causes of Usher syndrome in a Moroccan family with three affected siblings. We identify two novel compound heterozygote mutations (c.1054C?>?A, c.16544delT) in the GPR98 gene in the three affected siblings carrying post-linguale bilateral moderate hearing loss with normal vestibular functions and before installing visual disturbances. This is the first time that mutations in the GPR98 gene are described in the Moroccan deaf patients. |
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