Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
OBJECTIVE
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.
Wada
Y
Y
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. yukow@oph.med.tohoku.ac.jp
Abe
T
T
Takeshita
T
T
Sato
H
H
Yanashima
K
K
Tamai
M
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D014792:Visual Acuity; D014794:Visual Fields
D002352:Carrier Proteins; D017931:DNA Primers; D005136:Eye Proteins; D008840:Microfilament Proteins; C020324:fascin