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

Lookup NU author(s): Professor Sir John BurnORCiD


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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.

Publication metadata

Author(s): Takahashi M, Rapley E, Biggs PJ, Lakhani SR, Cooke D, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, Van Vloten WA, Breuning MH, Van Den Ouweland A, Halley D, Delpech B, Cleveland M, Leigh I, Chapman P, Burn J, Hohl D, Gorog J-P, Seal S, Mangion J, Warren W, Bignell G, Stratton MR

Publication type: Article

Publication status: Published

Journal: Human Genetics

Year: 2000

Volume: 106

Issue: 1

Pages: 58-65

Print publication date: 01/01/2000

ISSN (print): 0340-6717

ISSN (electronic): 1432-1203

Publisher: Springer


DOI: 10.1007/s004399900227

PubMed id: 10982183


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