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Molecular Biology Reports

, Volume 44, Issue 5, pp 429–434 | Cite as

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

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

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.

Keywords

Usher syndrome Hearing loss Retinitis pigmentosa GPR98 gene Mutation Moroccan family 

Notes

Acknowledgements

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).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

11033_2017_4129_MOESM1_ESM.pdf (784 kb)
Supplementary material 1 (PDF 784 KB)

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Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  • Amale Bousfiha
    • 1
    • 2
  • Amina Bakhchane
    • 1
  • Hicham Charoute
    • 1
  • Mustapha Detsouli
    • 1
  • Hassan Rouba
    • 1
  • Majida Charif
    • 3
  • Guy Lenaers
    • 3
  • Abdelhamid Barakat
    • 1
  1. 1.Human Molecular Genetics LaboratoryInstitut Pasteur du MarocCasablancaMorocco
  2. 2.Laboratoire des Sciences Biologiques, Filière Technique de SantéInstitution Supérieure des Professions Infirmières et Techniques de Santé (ISPITS)CasablancaMorocco
  3. 3.PREMMI, Mitochondrial Medicine Research CentreUniversité d’Angers, CHU Bât IRIS/IBSAngers Cedex 9France

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