Ontology highlight
ABSTRACT:
SUBMITTER: Chakarova CF
PROVIDER: S-EPMC2265653 | biostudies-literature | 2007 Nov
REPOSITORIES: biostudies-literature
Chakarova Christina F CF Papaioannou Myrto G MG Khanna Hemant H Lopez Irma I Waseem Naushin N Shah Amna A Theis Torsten T Friedman James J Maubaret Cecilia C Bujakowska Kinga K Veraitch Brotati B Abd El-Aziz Mai M MM Prescott De Quincy de Q Parapuram Sunil K SK Bickmore Wendy A WA Munro Peter M G PM Gal Andreas A Hamel Christian P CP Marigo Valeria V Ponting Chris P CP Wissinger Bernd B Zrenner Eberhart E Matter Karl K Swaroop Anand A Koenekoop Robert K RK Bhattacharya Shomi S SS
American journal of human genetics 20070926 5
We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinformatics, identified TOPORS (comprising three exons and encoding a protein of 1,045 aa) as the gene responsible for adRP. Mutations that include an insertion and a deletion have been identified in two adRP-affected families--one French Canadian and one ...[more]