Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families

Christina F. Chakarova, Sylvia Cherninkova, Ivailo Tournev, Naushin Waseem, Radka Kaneva, Albena Jordanava, Brotati K. Veraitch, Bhavdip Gill, Tracy Colclough, Anastasia Nakova, Alexander Oscar, Violeta Mihaylova, Amelia Nikolova-Hill, Alan F. Wright, Graeme C M Black, Simon Ramsden, Ivo Kremensky, Shomi S. Bhattacharya

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Purpose: To identify the disease-causing mutations in two large Bulgarian Romani (Gypsy) pedigrees: one with autosomal dominant retinitis pigmentosa (adRP) with partial penetrance and the other with severe X-linked RP (xlRP). Methods: Detailed clinical investigations were undertaken and genomic DNA was extracted from blood samples. DNA was analyzed by PCR amplification with gene-specific primers and direct genomic sequencing. Results: Analysis of the complete coding sequence of PRPF31 in the adRP family led to the identification of a new heterozygous splice site mutation IVS6+1G>T. RPGR mutation screening in affected male individuals in the X-linked RP family identified a hemizygous c.ORF15+652_653delAG mutation. Interestingly this mutation was found in a homozygous state in one severely affected female from the family. Conclusions: In this first report of molecular genetic analysis of retinitis pigmentosa in Romani families, we describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual. © 2006 Molecular Vision.
    Original languageEnglish
    Pages (from-to)909-914
    Number of pages5
    JournalMolecular vision
    Volume12
    Publication statusPublished - 11 Aug 2006

    Keywords

    • Adolescent
    • Adult
    • Base Sequence
    • Chromosomes, Human, X
    • genetics: Eye Proteins
    • Female
    • Genes, Dominant
    • Guanine
    • genetics: Gypsies
    • Homozygote
    • Humans
    • Introns
    • Linkage (Genetics)
    • Male
    • Middle Aged
    • Molecular Biology
    • Molecular Sequence Data
    • Mutation
    • Pedigree
    • Penetrance
    • Research Support, Non-U.S. Gov't
    • genetics: Retinitis Pigmentosa
    • Thymine

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