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Article

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

The New England journal of medicine - 24 Jan 2002

del Castillo Ignacio, Villamar Manuela, Moreno-Pelayo Miguel A, del Castillo Francisco J, Alvarez Araceli, Tellería Dolores, Menéndez Ibis, Moreno Felipe

Abstract excerpt

BACKGROUND: 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...

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Source

Identifiers

PMID: 11807148
DOI: 10.1056/NEJMoa012052

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.PMID 11807148Read ↗

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