Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.

Abstract

OBJECTIVE:

The etiology of hearing loss is heterogeneous and falls into the two broad categories of genetic and environmental. In the genetic subgroup, 70% are non syndromic. Fifty percent of nonsyndromic sensorineural deafness is due to a mutation in the connexin 26 gene. This article presents the detection rate of connexin mutations in a multiethnic Canadian population.

METHODS:

A study of patients with nonsyndromic hearing loss seen over a period of 2 years who had connexin 26 mutation testing.

RESULTS:

Nine of the 18 patients had connexin 26 mutations.

CONCLUSION:

The majority of our patients with connexin 26 mutations had moderate to profound hearing loss. Testing for connexin mutations should be standard care because it accounts for a large proportion of individuals with nonsyndromic hearing loss. Reasons for testing include ruling out a syndromic cause, predicting moderate to profound hearing loss, and the need for language intervention, cochlear implants, and genetic counselling.

• Authors: Mary Ann Thomas, Vazken M Der Kaloustian, Ted L Tewfik
• Journal: The Journal of otolaryngology (J Otolaryngol) Vol. 33 Issue 3 Pg. 189-92 (Jun 2004) ISSN: 0381-6605 [Print] Canada
• PMID: 15841999 (Publication Type: Journal Article)

Chemical References

• Connexins
• Connexin 26

Topics

• Canada
• Child
• Child, Preschool
• Connexin 26
• Connexins (genetics)
• Deafness (genetics)
• Disease Progression
• Ethnicity (genetics)
• Female
• Follow-Up Studies
• Genes, Recessive (genetics)
• Hearing Loss, Bilateral (genetics)
• Hearing Loss, Sensorineural (genetics)
• Heterozygote
• Humans
• Infant
• Male
• Mutation (genetics)