Electronic letter
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
Myrna Mustaphaa b, Nabiha Salema, Valérie Delaguea, Eliane Chouerya, Michella Ghassibeha, Myriam Raia, Jacques Loiseleta, Christine Petitb, André Mégarbanéaa Unité
de Génétique Médicale, Faculté de Médecine, Université
Saint-Joseph, Beirut, Lebanon, b Unité de Génétique des Déficits
Sensoriels, CNRS-URA 1968, Institut Pasteur, Paris, France
Correspondence to: Dr Mégarbané, Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, 42 rue de Grenelle, 75007 Paris, France, megarban@dm.net.lb
| The first 150 words of the full text of this article appear below. |
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Introduction |
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EDITOR
The most common sensory deficit in humans
is hearing loss, affecting 1 in 1000 children, with approximately half
of the cases having a genetic cause. The majority of these genetic causes are non-syndromic, of which approximately 75% have an autosomal recessive mode of inheritance.1 So far, nearly 30 genes
that cause non-syndromic recessive deafness (NSRD) have been located (for review see http://dnalab-www.uia.ac.be/dnalab/hhh). The loci corresponding to NSRD are designated DFNB, with a number corresponding to the chronology of their localisation. The first locus, DFNB1 (MIM
220290), located on chromosome 13q11-12,2 has been shown to be responsible for nearly half of NSRD owing to mutations in the
gene encoding the gap junction protein connexin 26 (GJB2) (MIM 121011).3 4 One
mutation, 30delG (also referred to as 35delG), accounts for the
majority of mutations in this gene in some ethnic
groups,3-8 while it is rarer in
others.9-15
The geographical position of Lebanon,
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RamShankar, M, Girirajan, S, Dagan, O, Ravi Shankar, H M, Jalvi, R, Rangasayee, R, Avraham, K B, Anand, A
(2003). Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J. Med. Genet.
40: e68-68
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