Discovery Of The C2299G Deletion Of The USH2A Gene In An Algerian Family

EasyChair Preprint 2070

Abstract

Introduction Deafness is the most common sensory deficit in children. Its social consequences depend on the moment of appearance and its severity. It presents a genetic heterogeneity. The aim of this work is to investigate the genetic causes of this deficit in the Algerian population. Materials and methods Some fifty Algerian families with at least one case of neurosensory hearing loss are recruited at the central laboratory of Blida University Hospital. All the members of the families were taken on EDTA tube and the DNA is extracted by the « salting out » method in the laboratory of genetic biochemistry of CHU Babeloued. The molecular study was done at the institute of vision in Paris Results and discussion Several mutations have been found among which this ancestral deletion C.2299delG in the exon 13 of the gene USH2A which was diagnosed in the homozygous state in a member of a consanguineous Algerian family. Conclusion The genetic diagnosis of congenital deafness is essential for early management of sensory deficit and other deficits in the case of syndromic deafness.

Keyphrases: Mutation, USH2A, WSE

@booklet{EasyChair:2070,
  author    = {Samia Abdi and Mohamed Makrelouf and Crystel Bonnet and Yahia Rous and Christine Petit and Akila Zenati},
  title     = {Discovery Of The C2299G Deletion Of The USH2A Gene In An Algerian Family},
  howpublished = {EasyChair Preprint 2070},
  year      = {EasyChair, 2019}}