Carrier Rates in the Midwestern United States for GJB2 Mutations Causing Inherited Deafness
Open Access
- 16 June 1999
- journal article
- research article
- Published by American Medical Association (AMA) in JAMA
- Vol. 281 (23) , 2211-2216
- https://doi.org/10.1001/jama.281.23.2211
Abstract
Congenital severe-to-profound deafness affects 0.05% to 0.1% of children in the United States. In most of these families, there is no history of hearing loss, and a definitive etiology is only rarely established in the deaf child. The majority of cases are ascribed to unknown or presumed genetic factors. Estimates of the proportion of deafness due to genetic factors vary from 20% to 76%.1-4Keywords
This publication has 13 references indexed in Scilit:
- Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3Science, 1998
- Novel Mutations in the Connexin 26 Gene (GJB2) That Cause Autosomal Recessive (DFNB1) Hearing LossAmerican Journal of Human Genetics, 1998
- A mutation in PDS causes non-syndromic recessive deafnessNature Genetics, 1998
- Connexin-26 mutations in sporadic non-syndromal sensorineural deafnessThe Lancet, 1998
- Connexin-26 mutations in sporadic and inherited sensorineural deafnessThe Lancet, 1998
- Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 GeneHuman Molecular Genetics, 1997
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafnessNature Genetics, 1997
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessNature, 1997
- Genetic epidemiological studies of early‐onset deafness in the U.S. school‐age populationAmerican Journal of Medical Genetics, 1993
- Genetic Epidemiology of Hearing ImpairmentAnnals of the New York Academy of Sciences, 1991