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Hearing loss: frequency and functional studies of the most common connexin26 alleles

✍ Scribed by Paola D'Andrea; Valentina Veronesi; Massimiliano Bicego; Salvatore Melchionda; Leopoldo Zelante; Enzo Di Iorio; Roberto Bruzzone; Paolo Gasparini

Book ID
117052358
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
271 KB
Volume
296
Category
Article
ISSN
0006-291X

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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.

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Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population
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Congenital sensorineural hearing loss affects approximately 1/1,000 live births. Mutations in the gene encoding connexin26 (GJB2) have been described as a major cause of genetic nonsyndromic hearing impairment. Additionally, another gap junction gene, connexin30 (GJB6), was found to be responsible f