title: Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.
abstract: BACKGROUND
  Hearing loss is the most prevalent human genetic sensorineural defect. Mutations in the CLDN14 gene, encoding the tight junction claudin 14 protein expressed in the inner ear, have been shown to cause non-syndromic recessive hearing loss DFNB29.
  
  
  OBJECTIVE
  We describe a Moroccan SF7 family with non-syndromic hearing loss. We performed linkage analysis in this family and sequencing to identify the mutation causing deafness.
  
  
  METHODS
  Genetic linkage analysis, suggested the involvement of CLDN14 and KCNE1 gene in deafness in this family. Mutation screening was performed using direct sequencing of the CLDN14 and KCNE1 coding exon gene.
  
  
  RESULTS
  Our results show the presence of c.11C>T mutation in the CLDN14 gene. Transmission analysis of this mutation in the family showed that the three affected individuals are homozygous, whereas parents and three healthy individuals are heterozygous. This mutation induces a substitution of threonine to methionine at position 4.
  
  
  CONCLUSIONS
  These data show that CLDN14 gene can be i mplicated in the development of hearing loss in SF7 family; however, the pathogenicity of c.11C>T mutation remains to be determined.
authors: Département de Recherche Scientifique, Laboratoire de Génétique Moléculaire et Humaine, Institut Pasteur, 1, Place Louis Pasteur, C.P. 20360 Casablanca, Morocco.
authors: Majida
authors: M
authors: Charif
authors: Redouane
authors: R
authors: Boulouiz
authors: Amina
authors: A
authors: Bakhechane
authors: Houda
authors: H
authors: Benrahma
authors: Halima
authors: H
authors: Nahili
authors: Abdelmajid
authors: A
authors: Eloualid
authors: Hassan
authors: H
authors: Rouba
authors: Mostafa
authors: M
authors: Kandil
authors: Omar
authors: O
authors: Abidi
authors: Guy
authors: G
authors: Lenaers
authors: Abdelhamid
authors: A
authors: Barakat
keywords: CLDN14 gene; Moroccan family; hearing loss; mutation