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

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 testing. 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.