Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa
Y Wada, A Tada, T Itabashi, M Kawamura… - American journal of …, 2005 - Elsevier
Y Wada, A Tada, T Itabashi, M Kawamura, H Sato, M Tamai
American journal of ophthalmology, 2005•ElsevierPURPOSE: To determine the presence and frequency of mutations in the IMPDH1 gene in
Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to
characterize the clinical characteristics of patients with the Lys238Arg mutation in the
IMPDH1 gene. DESIGN: Case reports and results of DNA analysis. METHODS: All 14
coding exons of the IMPDH1 gene were directly sequenced in 96 unrelated patients with
ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, and …
Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to
characterize the clinical characteristics of patients with the Lys238Arg mutation in the
IMPDH1 gene. DESIGN: Case reports and results of DNA analysis. METHODS: All 14
coding exons of the IMPDH1 gene were directly sequenced in 96 unrelated patients with
ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, and …
PURPOSE
To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene.
DESIGN
Case reports and results of DNA analysis.
METHODS
All 14 coding exons of the IMPDH1 gene were directly sequenced in 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, and kinetic visual field tests.
RESULTS
Two novel mutations, a Leu227Pro and Lys238Arg, in the IMPDH1 gene were identified in two unrelated families with ADRP. The clinical features associated with the Lys238Arg mutation were an early-onset and severe retinal degeneration.
CONCLUSIONS
The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.
Elsevier
