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

Détails

ID Serval
serval:BIB_D687E0C26EA2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
Périodique
American Journal of Human Genetics
Auteur⸱e⸱s
Rivolta  C., Sweklo  E. A., Berson  E. L., Dryja  T. P.
ISSN
0002-9297 (Print)
Statut éditorial
Publié
Date de publication
06/2000
Peer-reviewed
Oui
Volume
66
Numéro
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
Résumé
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.
Mots-clé
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
Oui
Création de la notice
24/01/2008 15:14
Dernière modification de la notice
20/08/2019 16:56
Données d'usage