Article
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
European journal of medical genetics - 1 Jan 2000
Feldmann Delphine, Le Maréchal Cédric, Jonard Laurence, Thierry Patrick, Czajka Cécile, Couderc Remy, Ferec Claude, Denoyelle Françoise, Marlin Sandrine, Fellmann Florence
Abstract excerpt
Mutations in the GJB2 gene encoding the gap junction protein connexin 26 are responsible for up to 30% of all cases of autosomal recessive nonsyndromic hearing impairment (HI) with prelingual onset in most populations. The corresponding locus DFNB1, located on chromosome 13q11-q12, is also affected by three distinct deletions. These deletions extended distally to GJB2, which remains intact. We report a novel...
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