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Arch Ophthalmol. 2007 Feb;125(2):219-24.

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

Author information

1
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

Erratum in

  • Arch Ophthalmol. 2007 Aug;125(8):1013.

Abstract

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.

PMID:
17296898
DOI:
10.1001/archopht.125.2.219
[Indexed for MEDLINE]

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