Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

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

    Research output: Contribution to journalArticleResearchpeer-review


    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 missense variant in one of the genes residing in this interval, C2ORF71, has recently been reported to be associated with RP. C2ORF71, encoding a putative protein of 1,288 amino acids, was found to be specifically expressed in human retina. Furthermore, RT-PCR analysis revealed that in the mouse eye, C2orf71 is expressed as early as embryonic day 14. Mutation analysis detected a 1 bp deletion (c.946 del; p.Asn237MetfsX5) segregating with RP in the Dutch family, whereas a nonsense mutation (c.556C > T; p.Gln186X) was identified in the Israeli family. Microsatellite-marker analysis in additional Israeli families revealed cosegregation of a C2ORF71-linked haplotype in one other family, in which a 13 bp deletion (c.2756_2768 del; p.Lys919ThrfsX) was identified. Clinically, patients with mutations in C2ORF71 show signs of typical RP; these signs include poor night vision and peripheral field loss, typical retinal bone-spicule-type pigment deposits, pale appearance of the optic disk, and markedly reduced or completely extinguished electroretinograms. In conclusion, truncating mutations in C2ORF71 were identified in three unrelated families, thereby confirming the involvement of this gene in the etiology of arRP.

    Original languageEnglish
    Pages (from-to)783-8
    Number of pages6
    JournalAmerican Journal of Human Genetics
    Issue number5
    Publication statusPublished - 14 May 2010


    • Animals
    • Chromosome Mapping
    • DNA Mutational Analysis
    • Eye Proteins/genetics
    • Haplotypes
    • Homozygote
    • Humans
    • Mice
    • Microsatellite Repeats
    • Mutation
    • Mutation, Missense
    • Proteins/genetics
    • Retina/metabolism
    • Retinitis Pigmentosa/genetics
    • Reverse Transcriptase Polymerase Chain Reaction


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