Connexin 26 studies in patients with sensorineural hearing loss.

Abstract

OBJECTIVE:

To determine the spectrum of connexin 26 (Cx26) mutations and their phenotypes in children with sensorineural hearing loss (SNHL) or mixed hearing loss (MHL).

DESIGN:

Children with SNHL or MHL were prospectively tested for mutations in the entire coding region of the Cx26 gene.

PATIENTS:

Children with SNHL or MHL with no obvious etiology for the hearing loss.

RESULTS:

Between December 1, 1998, and July 1, 2000, 107 patients with SNHL or MHL from 99 families underwent Cx26 testing. Most patients were aged 1 week to 16 years (61 boys and 46 girls). Thirty (30%) of 99 probands had Cx26 mutations: biallelic mutations were detected in 18 (9 homozygous and 9 compound heterozygous) and single mutations were detected in 12. Twelve previously reported mutations (35delG, 167delT, E47X, L90P, M34T, G12V, V37I, R143W, V84L, V153I, V27I, and 310del14) and 3 novel mutations (E129K, T8M, and N206S) were found. Hearing loss in patients with biallelic Cx26 mutations ranged from unilateral high frequency to bilateral profound. Four children, 2 with biallelic mutations, had temporal bone abnormalities.

CONCLUSIONS:

Connexin 26 mutations are common in children with SNHL, and it is likely that the homozygous and compound heterozygous mutations cause the SNHL. However, pathogenicity is less certain when only a single Cx26 mutation is present. Patients with biallelic Cx26 mutations had a slightly higher incidence of milder hearing loss than in previous studies. Children with SNHL or MHL should be tested for Cx26 mutations early in their evaluation.

• Authors: M A Kenna, B L Wu, D A Cotanche, B R Korf, H L Rehm
• Journal: Archives of otolaryngology--head & neck surgery (Arch Otolaryngol Head Neck Surg) Vol. 127 Issue 9 Pg. 1037-42 (Sep 2001) ISSN: 0886-4470 [Print] United States
• PMID: 11556849 (Publication Type: Journal Article)

Chemical References

• Connexins
• GJB2 protein, human
• Connexin 26

Topics

• Adolescent
• Child
• Child, Preschool
• Connexin 26
• Connexins (genetics)
• Deafness (complications, genetics)
• Female
• Hearing Loss, Sensorineural (complications, genetics)
• Humans
• Infant
• Infant, Newborn
• Male
• Mutation
• Phenotype