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Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing Loss

✍ Scribed by P.M. Kelley; D.J. Harris; B.C. Comer; J.W. Askew; T. Fowler; S.D. Smith; W.J. Kimberling

Book ID
117852370
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
386 KB
Volume
62
Category
Article
ISSN
0002-9297

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

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Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
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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.