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Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a Sicilian population

Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a... To the Editor : Congenital hearing loss occurs in approximately 11,000 live births, and 50% of these cases are hereditary ( 1 ). Most cases of hereditary hearing loss are non-syndromic sensorineural hearing loss, with autosomal-recessive forms accounting for 85%. At the end of 2001, 81 loci had been identified as being associated with congenital hearing loss: 41 autosomal-dominant (DFNA) loci; 30 autosomal-recessive loci; eight X-linked recessive (DFN) loci; and one DFNM1 locus (G. Van Camp & R. J. H. Smith, Hereditary Hearing Loss Homepage: http:dnalab http://www.uia.ac.be/dnalab/hhh/ ). Mutations in the gene for DFNB1 (the connexin-26 gene) are the most frequent cause of monogenic hearing loss, being responsible for 50% of all cases of autosomal-recessive pre-lingual hearing loss ( 2 ). The most common mutation associated with DFNB1 hearing loss is the deletion of a guanine from a series of six guanines in the coding region of the GJB2 gene. This leads to a frameshift and a resulting stop codon at position 13 ( 3 ). In recent studies, the mutation 35delG has been reported to be responsible for the majority of DFNB1 deafness in American and European populations and it has been proposed that analysis of the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a Sicilian population

Morton, NE
Clinical Genetics , Volume 63 (6) – Jun 1, 2003
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References (11)

Publisher
Wiley
Copyright
Blackwell Munksgaard 2003
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1034/j.1399-0004.2003.00071.x
Publisher site
See Article on Publisher Site

Abstract

To the Editor : Congenital hearing loss occurs in approximately 11,000 live births, and 50% of these cases are hereditary ( 1 ). Most cases of hereditary hearing loss are non-syndromic sensorineural hearing loss, with autosomal-recessive forms accounting for 85%. At the end of 2001, 81 loci had been identified as being associated with congenital hearing loss: 41 autosomal-dominant (DFNA) loci; 30 autosomal-recessive loci; eight X-linked recessive (DFN) loci; and one DFNM1 locus (G. Van Camp & R. J. H. Smith, Hereditary Hearing Loss Homepage: http:dnalab http://www.uia.ac.be/dnalab/hhh/ ). Mutations in the gene for DFNB1 (the connexin-26 gene) are the most frequent cause of monogenic hearing loss, being responsible for 50% of all cases of autosomal-recessive pre-lingual hearing loss ( 2 ). The most common mutation associated with DFNB1 hearing loss is the deletion of a guanine from a series of six guanines in the coding region of the GJB2 gene. This leads to a frameshift and a resulting stop codon at position 13 ( 3 ). In recent studies, the mutation 35delG has been reported to be responsible for the majority of DFNB1 deafness in American and European populations and it has been proposed that analysis of the

Journal

Clinical Genetics – Wiley

Published: Jun 1, 2003

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