 |
|
Novel USH2A Mutations in Israeli Patients With Retinitis Pigmentosa and Usher Syndrome Type 2
Nadia Kaiserman, MSc;
Alexey Obolensky, MD, PhD;
Eyal Banin, MD, PhD;
Dror Sharon, PhD
Arch Ophthalmol. 2007;125(2):219-224.
Objective To identify USH2A mutations in Israeli patients with autosomal-recessive Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP).
Methods Patients from 95 families with RP and 4 with USH2 were clinically evaluated. USH2A exons 2-72 were scanned for mutations using single-strand conformation and sequencing analyses. The frequency of novel missense changes was determined in patients and controls using restriction endonucleases.
Results The analysis revealed 3 USH2A mutations, 2 of which are novel, in 2 families with USH2 and a large family (MOL0051) with both USH2 and RP. Compound heterozygotes for 2 null mutations (Thr80fs and Arg737stop) in MOL0051 suffered from USH2 while compound heterozygotes for 1 of the null mutations and a novel missense mutation (Gly4674Arg) had nonsyndromic RP.
Conclusions Our results support the involvement of USH2A in nonsyndromic RP and we report here of a second, novel, missense mutation in this gene causing autosomal-recessive RP.
Clinical Relevance Possible involvement of USH2A should be considered in the molecular genetic evaluation of patients with autosomal-recessive RP. Understanding the mechanism by which different USH2A mutations cause either USH2 or RP may assist in the development of novel therapeutic approaches.
Author Affiliations: Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
 CiteULike  Connotea  Delicious  Digg  Facebook  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Novel Null Mutations in the EYS Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population
Bandah-Rozenfeld et al.
IOVS 2010;51:4387-4394.
ABSTRACT
| FULL TEXT
|
