A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.
Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12-13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene. Here we report a new multi-generation cylindromatosis family whose condition maps to that region, with 7/13 tumors showing LOH on 16q.
Thomson
S A
SA
Department of Pediatrics, Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, USA.
Rasmussen
S A
SA
Zhang
J
J
Wallace
M R
MR
D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D002648:Child; D002885:Chromosomes, Human, Pair 16; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*
D005819:Genetic Markers