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Article

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

American journal of human genetics - 14 May 2010

Collin Rob W J, Safieh Christine, Littink Karin W, Shalev Stavit A, Garzozi Hanna J, Rizel Leah, Abbasi Anan H, Cremers Frans P M, den Hollander Anneke I, Klevering B Jeroen, Ben-Yosef Tamar

Abstract excerpt

With a worldwide prevalence of 1 in 4,000, retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. More than 30 genes and loci have been implicated in nonsyndromic autosomal-recessive (ar) RP. Genome-wide homozygosity mapping was conducted in one Dutch and one Israeli family affected by arRP. The families were found to share a 5.9 Mb homozygous region on chromosome 2p23.1-p23.3. A...

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PMID: 20398884
DOI: 10.1016/j.ajhg.2010.03.016
PMCID: PMC2869006

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