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Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

✍ Scribed by DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Srisailapathy; SS Rosengren; AF Markham; RF Mueller; NJ Lench; G Van Camp; RJH Smith; VC Sheffield

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
223 KB
Volume
11
Category
Article
ISSN
1059-7794

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✦ Synopsis

Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 locus or in which the ARNSHL phenotype cosegregated with markers from chromosome 13q12. Cx26 mutations were found in six of the seven families and included two previously described mutations (W24X and W77X) and two novel Cx26 mutations: a single base pair deletion of nucleotide 35 resulting in a frameshift and a C-to-T substitution at nucleotide 370 resulting in a premature stop codon (Q124X). We have developed and optimized allele-specific PCR primers for each of the four mutations to rapidly determine carrier and noncarrier status within families. We also have developed a single stranded conformational polymorphism (SSCP) assay which covers the entire Cx26 coding region. This assay can be used to screen individuals with nonsyndromic hearing loss for mutations in the CX26 gene. Hum Mutat 11:387-394, 1998.

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Clinical phenotype and mutations in conn
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
✍ Cohn, Edward S.; Kelley, Philip M. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 45 KB πŸ‘ 2 views

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.