Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I
โ Scribed by Lisa M. Astuto; Michael D. Weston; Carol A. Carney; Denise M. Hoover; Cor W.R.J. Cremers; Mariette Wagenaar; Claes Moller; Richard J.H. Smith; Sandra Pieke-Dahl; Jacquie Greenberg; Raj Ramesar; Samuel G. Jacobson; Carmen Ayuso; John R. Heckenlively; Marta Tamayo; Michael B. Gorin; Willie Reardon; William J. Kimberling
- Book ID
- 117853450
- Publisher
- American Society of Human Genetics
- Year
- 2000
- Tongue
- English
- Weight
- 361 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/316889
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Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least
Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis