Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
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.
KeywordsUsher syndrome Hearing loss Retinitis pigmentosa GPR98 gene Mutation Moroccan family
Authors are indebted to the family that contributed to this study. This work was supported by Pasteur Institute of Morocco (IPM) and a collaborative project between the French National Institute of Health and Medical Research (INSERM) and the Moroccan National Centre for Scientific and Technical Research (CNRST).
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Conflict of interest
The authors declare that they have no conflict of interest.
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