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- Title
Connexin Mutation Testing of Children with Nonsyndromic, Autosomal Recessive Sensorineural Hearing Loss.
- Authors
Thomas, Mary Ann; Der Kaloustian, Vazken M.; Tewfik, Ted L.
- 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.
- Subjects
ETIOLOGY of diseases; SENSORINEURAL hearing loss; CONNEXINS; COUNSELING; EAR diseases; COCHLEAR implants
- Publication
Journal of Otolaryngology, 2004, Vol 33, Issue 3, p189
- ISSN
0381-6605
- Publication type
Article
- DOI
10.2310/7070.2004.00189