Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Details

Serval ID
serval:BIB_D687E0C26EA2
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
Journal
American Journal of Human Genetics
Author(s)
Rivolta  C., Sweklo  E. A., Berson  E. L., Dryja  T. P.
ISSN
0002-9297 (Print)
Publication state
Published
Issued date
06/2000
Peer-reviewed
Oui
Volume
66
Number
6
Pages
1975-8
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jun
Abstract
Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.
Keywords
Alleles Amino Acid Sequence Base Sequence *Deafness Epidermal Growth Factor/chemistry Extracellular Matrix Proteins/chemistry/*genetics Female Genes, Recessive/*genetics Humans Laminin/chemistry Male Molecular Sequence Data Mutation, Missense/*genetics Pedigree Protein Structure, Tertiary Retinitis Pigmentosa/*genetics Syndrome
Pubmed
Web of science
Open Access
Yes
Create date
24/01/2008 14:14
Last modification date
20/08/2019 15:56
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