A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
作者： Ignacio del Castillo , Manuela Villamar , Miguel A. Moreno-Pelayo , Francisco J. del Castillo , Araceli Álvarez
DOI: 10.1056/NEJMOA012052
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摘要: Background Inherited hearing impairment affects about 1 in 2000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness different populations have mutations the gene encoding gap-junction protein connexin 26 (GJB2) at locus DFNB1 on chromosome 13q12. However, a large fraction (10 42 percent) GJB2 only one mutant allele; accompanying mutation has not been identified. DFNB1-linked familial cases no also reported. Methods We evaluated 33 unrelated probands who had allele. Nine subjects evidence linkage DFNB1. used haplotype analysis for markers 13q12 search other than involving GJB2. Results identified 342-kb deletion 30 (GJB6), that is reported be expressed inner ear. The extended distally GJB2, which r...
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