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Takuro Fujimaki, Arief S. Kartasasmita, Keiko Fujiki, Erwin Iskandar, Iwan Sovani, Akira Murakami; Genetic Analysis of Indonesian Patients with Retinitis Pigmentosa (RP). Invest. Ophthalmol. Vis. Sci. 2011;52(14):5393.
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© ARVO (1962-2015); The Authors (2016-present)
To report a novel nonsense mutation of Rhodopsin (RHO) gene of two families with autosomal recessive retinitis pigmentosa (arRP) detected in genetic analysis of 38 unrelated Indonesian RP patients.
Mutation screening of the RHO, ROM1, PRPH2 genes were performed on 38 unrelated patients with retinitis pigmentosa (RP) by direct sequencing. The clinical features were characterized by complete ophthalmologic examinations. After having got positive result, genetic and clinical examination of family members then carried out. To examine founder effect in the two families, haplotype analysis was performed.
A novel homozygous nonsense mutation was detected by G to A transition at nucleotide position c.482 in exon 2 of the RHO gene in two unrelated patients, resulting tryptophan-to-stop at codon 161 (c.482G>A, p.W161X). Examination of family members of these two patients showed that the affected members were homozygous and unaffected carriers were heterozygous on the p.W161X mutation. Haplotype data revealed that members of two families have carried the same disease-associated variants in IVS1 RHOand D3S2322. No p.W161X mutation was detected in 45 normal Indonesian subjects. On the remaining 36 RP patients, no mutation was detected in RHO, ROM1, PRPH2 genes.
We detected homozygous novel nonsense mutation (p.W161X) in the RHO gene of two unrelated families by mutation screening of RHO gene for 38 Indonesian RP patients. Haplotype analysis suggested that the p.W161X was founder mutation.
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