Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

ABSTRACT:

Objectives

To document the audiologic phenotype of children with biallelic GJB2 (connexin 26) mutations, and to correlate it with the genotype.

Design

Prospective, observational study.

Setting

Tertiary care children's hospital.

Patients

Infants and children with sensorineural hearing loss (SNHL).

Intervention

Sequencing of the GJB2 (connexin 26) gene.

Main outcome measures

Degree and progression of SNHL.

Results

From December 1, 1998, through November 30, 2006, 126 children with biallelic GJB2 mutations were identified. Of the 30 different mutations identified, 13 (43%) were truncating and 17 (57%) were nontruncating; 62 patients had 2 truncating, 30 had 1 truncating and 1 nontruncating, and 17 had 2 nontruncating mutations. Eighty-four pat

SUBMITTER: Kenna MA 

PROVIDER: S-EPMC4528189 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature