title: Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
abstract: Non-syndromic recessive deafness (NSRD) is the most commonly encountered form of hereditary hearing loss. The majority of NSRD cases in the Mediterranean area are linked to the DFNB1 locus (the connexin 26 GJB2 gene). Unrelated NSRD patients issued from 68 Jordanian families, were tested for mutations of the GJB2 gene by sequencing. Sixteen per cent of the families tested were linked to the DFNB1 locus. The 35delG was the only GJB2 mutation detected in these families. One of these families, presenting with four affected members and not linked to the gene, was subjected to a genome-wide search and was found to be mapped to 9q34.3 with a multipoint lodscore of 3.9. One candidate gene in the interval, coding for the chloride intracellular channel 3, CLIC3, was tested and excluded. The identification of a new NSRD locus, DFNB33, in one Jordanian family, shows the wide genetic heterogeneity that characterizes hearing impairment and the genetic diversity in Middle-Eastern populations.
authors.affiliation: Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.
authors.forename: Myrna
authors.initials: M
authors.lastname: Medlej-Hashim
authors.forename: Mirna
authors.initials: M
authors.lastname: Mustapha
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Dominique
authors.initials: D
authors.lastname: Weil
authors.forename: Joel
authors.initials: J
authors.lastname: Parronaud
authors.forename: Nabiha
authors.initials: N
authors.lastname: Salem
authors.forename: Valérie
authors.initials: V
authors.lastname: Delague
authors.forename: Jacques
authors.initials: J
authors.lastname: Loiselet
authors.forename: Mark
authors.initials: M
authors.lastname: Lathrop
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007597:Jordan; D008126:Lod Score; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26