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Yuko Wada, Toshiaki Abe, Takayuki Takeshita, Hajime Sato, Kenji Yanashima, Makoto Tamai; Mutation of Human Retinal Fascin Gene (FSCN2) Causes Autosomal Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2001;42(10):2395-2400.
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purpose. To characterize the clinical features of 14 Japanese patients with
autosomal dominant retinitis pigmentosa (ADRP) who were found to have a
mutation in the FSCN2 gene.
methods. Mutation screening by single-strand conformation polymorphism (SSCP)
was performed in 120 unrelated patients with ADRP, 200 unrelated
patients with autosomal recessive retinitis pigmentosa (ARRP), and 100
patients with 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 angiography, and kinetic visual field
results. A novel 208delG mutation in the FSCN2 gene was
identified in 14 patients 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 produces ADRP. This mutation was found in 3.3% of the patients
with ADRP in Japan, which suggests that it may be relatively common in
Japanese patients with ADRP.
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