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

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 disea...

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Published inHuman genetics Vol. 106; no. 1; pp. 58 - 65
Main Authors TAKAHASHI, M, RAPLEY, E, EVANS, D. G, SCHRANDER-STUMPEL, C, BEEMER, F. A, VAN VLOTEN, W. A, BREUNING, M. H, VAN DEN OUWELAND, A, HALLEY, D, DELPECH, B, CLEVELAND, M, LEIGH, I, BIGGS, P. J, CHAPMAN, P, BURN, J, HOHL, D, GÖRÖG, J.-P, SEAL, S, MANGION, J, WARREN, W, BIGNELL, G, STRATTON, M. R, LAKHANI, S. R, COOKE, D, HANSEN, J, BLAIR, E, HOFMANN, B, SIEBERT, R, TURNER, G
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 01.01.2000
Berlin
New York, NY
Subjects
Biological and medical sciences
Carcinoma, Adenoid Cystic - genetics
Chromosomes, Human, Pair 16
Dermatology
Female
Genetic Heterogeneity
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Haplotypes
Humans
Lod Score
Loss of Heterozygosity
Male
Medical sciences
Microsatellite Repeats
Pedigree
Polymorphism, Genetic
Skin Neoplasms - genetics
Syndrome
Tumors of the skin and soft tissue. Premalignant lesions
Genetic mapping
Cylindroma
Human
Skin disease
Linkage
Chromosome E16
Family study
Loss of heterozygosity
Tumor
Genetic disease
Tumor suppressor gene
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Summary: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.
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ISSN:0340-6717
1432-1203
DOI:10.1007/s004399900227