Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

Purpose: To screen for possible disease-causing mutations in rhodopsin (RHO), pre-mRNA processing factor 31 (PRPF31), retinitis pigmentosa 1 (RP1), and inosine monophosphate dehydrogenase 1 (IMPDH1) genes in Indian patients with isolated and autosomal dominant forms of retinitis pigmentosa (adRP). Information on such data is not available in India and hence this study was undertaken.

Methods: Blood samples were obtained from 48 isolated and 53 adRP patients, who were recruited for the study.

Karyotyping in retinoblastoma--a statistical approach.

Purpose: Karyotype analysis in hereditary retinoblastoma is considered to be of marginal value in risk prediction due to uncertainties in the assessment of 13q14 deletions. However, it is a low cost genetic test for retinoblastoma in developing countries. In the present study, the results of karyotype analysis were refined by a statistical method to overcome limitations.

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Purpose: A four-generation family containing eight affected males who inherited X-linked developmental lens opacity and microcornea was studied. Some members in the family had mild to moderate nonocular clinical features suggestive of Nance-Horan syndrome. The purpose of the study was to map genetically the gene in the large 57-live-member Asian-Indian pedigree.

RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.

We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT --> AAG) in exon 9 in an arRP patient and a heterozygous missense transversion (AAT --> AAG) also in exon 9 of an LCA patient.