Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13

Meiko Takahashi, Elizabeth Rapley, Patrick J. Biggs, Sunil R. Lakhani, David Cooke, Juliana Hansen, Edward Blair, B. Hofmann, Reiner Siebert, Gwen Turner, D. Gareth Evans, Connie Schrander-Stumpel, Frits A. Beemer, Willem A. Van Vloten, Martijn H. Breuning, Ans Van Den Ouweland, Dicky Halley, Bertrand Delpech, Mark Cleveland, Irene LeighPam Chapman, John Burn, Daniel Hohl, Jean Philippe Görög, Sheila Seal, Jon Mangion, William Warren, Graham Bignell, Michael R. Stratton

    Research output: Contribution to journalArticle

    41 Scopus citations

    Abstract

    Familial cylindromatosis is an autosomal dominant predisposition to multiple neoplasms of the skin appendages. The susceptibility gene has previously been mapped to chromosome 16q12-q13 and has features of a recessive oncogene/tumour suppressor gene. We have now evaluated 19 families with this disease by a combination of genetic linkage analysis and loss of heterozygosity in cylindromas from affected individuals. All 15 informative families show linkage to this locus, providing no evidence for genetic heterogeneity. Recombinant mapping has placed the gene in an interval of approximately 1 Mb. There is no evidence, between families, of haplotype sharing that might be indicative of common founder mutations.

    Original languageEnglish (US)
    Pages (from-to)58-65
    Number of pages8
    JournalHuman genetics
    Volume106
    Issue number1
    DOIs
    StatePublished - 2000

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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