Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa

Détails

ID Serval
serval:BIB_32550538876F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
Périodique
Experimental Eye Research
Auteur(s)
Seyedahmadi  B. J., Rivolta  C., Keene  J. A., Berson  E. L., Dryja  T. P.
ISSN
0014-4835 (Print)
Statut éditorial
Publié
Date de publication
08/2004
Peer-reviewed
Oui
Volume
79
Numéro
2
Pages
167-73
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Aug
Résumé
A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146 unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (ARRP) uncovered 54 different sequence variations, including 18 likely pathogenic mutations (13 frameshift, three nonsense, and two missense), 12 changes of uncertain pathogenicity (11 missense changes and one in-frame deletion), and 24 non-pathogenic rare variants or polymorphisms. Of the 18 likely pathogenic mutations, nine were novel. Among the USH2 patients, 50 (39%) had one or two likely pathogenic mutations. The most common mutant allele in USH2 patients was E767fs, which was found in 29 patients, including one homozygote. Among the ARRP patients, we found 17 (12%) with one or two likely pathogenic mutations. The most common mutant allele in ARRP patients was C759F and it was found in 10 patients. The C759F allele was also found in two USH2 patients; in neither of them was a change in the other allele found. The second most common mutant allele in both patient groups was L1447fs (found in 6/50 USH2 patients and 6/17 ARRP patients). Of the 50+17=67 patients with identified USH2A mutations, only one mutation in one allele was found in 41+12=53 (79%); the reason for the high proportion of patients with only one identified mutation is obscure. Our results indicate that USH2A mutations are found in about 7% of all cases of RP in North America, a frequency similar to the RPGR gene (8%) and the rhodopsin gene (10%).
Mots-clé
Extracellular Matrix Proteins/*genetics Female Genetic Screening/methods Hearing Loss/congenital/genetics Humans Male Mutation Pedigree Retinitis Pigmentosa/*genetics Syndrome
Pubmed
Web of science
Création de la notice
24/01/2008 14:14
Dernière modification de la notice
20/08/2019 13:17
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