A Mutation (2314delG) in the Usher Syndrome Type IIA Gene: High Prevalence and Phenotypic Variation
β Scribed by Xue-Zhong Liu; Carolyn Hope; Chuan Yu Liang; Jiu Mu Zou; Li Rong Xu; T. Cole; Robert F. Mueller; Sarah Bundey; Walter Nance; Karen P. Steel; Steve D.M. Brown
- Book ID
- 117852779
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 69 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302332
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Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present stu
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B