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Article

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

Molecular biology reports - 1 Oct 2017

Bousfiha Amale, Bakhchane Amina, Charoute Hicham, Detsouli Mustapha, Rouba Hassan, Charif Majida, Lenaers Guy, Barakat Abdelhamid

Abstract excerpt

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...

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PMID: 28951997
DOI: 10.1007/s11033-017-4129-9

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