Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.
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.
Medlej-Hashim
Myrna
M
Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.
Mustapha
Mirna
M
Chouery
Eliane
E
Weil
Dominique
D
Parronaud
Joel
J
Salem
Nabiha
N
Delague
Valérie
V
Loiselet
Jacques
J
Lathrop
Mark
M
Petit
Christine
C
Mégarbané
André
A
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26