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Arch Ophthalmol. 2009 Jun;127(6):784-90. doi: 10.1001/archophthalmol.2009.112.

Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

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  • 1Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hung Hom, Kowloon, Hong Kong, China.

Abstract

OBJECTIVE:

To screen mutations in the PRPF31, RHO, and PRPH2 genes in Chinese patients with retinitis pigmentosa (RP).

METHODS:

Patients with RP were recruited from Retina Hong Kong. All the exons of the PRPF31, RHO, and PRPH2 genes were amplified and screened for mutations using single-stranded conformation polymorphism analysis followed by DNA sequencing. Frequencies of sequence changes were determined in patients and controls.

RESULTS:

In 76 patients from 54 families, 3 pathogenic mutations and 32 nonpathogenic sequence changes were identified. One family with autosomal dominant RP was found to harbor a novel truncating PRPF31 mutation (p.Phe262SerfsX59) and a known missense RHO mutation (p.Pro347Leu), and 1 affected woman was heterozygous for both mutations. One simplex RP case was caused by a novel truncating PRPH2 mutation (p.Ala78LeufsX99). Thirteen of the 32 nonpathogenic sequence changes were novel and were found in low frequencies in patients with RP and controls.

CONCLUSIONS:

Mutations in PRPF31, RHO, and PRPH2 were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31 and PRPH2 truncating mutations were novel.

CLINICAL RELEVANCE:

A search for a common cause for RP in Chinese patients is needed. The co-occurrence of 2 different gene mutations may modify the phenotype severity.

PMID:
19506198
[PubMed - indexed for MEDLINE]
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