Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

doi:10.1086/521953

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Article

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

American journal of human genetics - 1 Nov 2007

Chakarova Christina F, Papaioannou Myrto G, Khanna Hemant, Lopez Irma, Waseem Naushin, Shah Amna, Theis Torsten, Friedman James, Maubaret Cecilia, Bujakowska Kinga, Veraitch Brotati, Abd El-Aziz Mai M, Prescott De Quincy, Parapuram Sunil K, Bickmore Wendy A, Munro Peter M G, Gal Andreas, Hamel Christian P, Marigo Valeria, Ponting Chris P, Wissinger Bernd, Zrenner Eberhart, Matter Karl, Swaroop Anand, Koenekoop Robert K, Bhattacharya Shomi S

Abstract excerpt

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...

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Identifiers

PMID: 17924349
DOI: 10.1086/521953
PMCID: PMC2265653

Genes

TOPORS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.PMID 17924349Read ↗

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