Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa

Citation
Y. Wada et al., Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa, INV OPHTH V, 42(10), 2001, pp. 2395-2400
Citations number
20
Language
INGLESE
art.tipo
Article
Categorie Soggetti
da verificare
Journal title
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
ISSN journal
0146-0404 → ACNP
Volume
42
Issue
10
Year of publication
2001
Pages
2395 - 2400
Database
ISI
SICI code
0146-0404(200109)42:10<2395:MOHRFG>2.0.ZU;2-K
Abstract
PURPOSE. To characterize the clinical features of 14 Japanese patients with autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mu tation in the FSCN2 gene. METHODS. Mutation screening by single-strand conformation polymorphism (SSC P) was performed in 120 unrelated patients with ADRP, 200 unrelated patient s with autosomal recessive retinitis pigmentosa (ARRP), and 100 patients wi th simplex RP (SRP). The DNA fragment that showed abnormal mobility on SSCP was sequenced. The clinical features of these patients were determined by visual acuity, slit lamp biomicroscopy, electroretinography, fluorescein an giography, and kinetic visual field testing. RESULTS. A novel 208delG mutation in the FSCN2 gene was identified in 14 pa tients from four unrelated families with ADRP. The ophthalmic findings were typical of RP. CONCLUSIONS. The findings show that a 208delG mutation in the FSCN2 gene pr oduces ADRP. This mutation was found in 3.3% of the patients with ADRP in J apan, which suggests that it may be relatively common in Japanese patients with ADRP.