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Article

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.

International journal of audiology - 1 Aug 2014

Salvago Pietro, Martines Enrico, La Mattina Eleonora, Mucia Marianna, Sammarco Pietro, Sireci Federico, Martines Francesco

Abstract excerpt

OBJECTIVE: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 102 Sicilian NSHL patients. RESULTS: Fifteen different...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24793888
DOI: 10.3109/14992027.2014.905717

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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