A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
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- 24 January 2002
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 346 (4) , 243-249
- https://doi.org/10.1056/nejmoa012052
Abstract
Inherited hearing impairment affects about 1 in 2000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in different populations have mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) at locus DFNB1 on chromosome 13q12. However, a large fraction (10 to 42 percent) of patients with GJB2 mutations have only one mutant allele; the accompanying mutation has not been identified. DFNB1-linked familial cases with no mutation in GJB2 have also been reported.Keywords
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