title: Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.
abstract: Familial cylindromatosis is a rare dominantly inherited disease characterized by the development of multiple benign tumours of the skin appendages, including cylindromas, trichoepitheliomas and spiradenomas. The gene responsible was positionally cloned recently, and was designated CYLD. We describe a family with cylindromatosis, in which affected individuals have an inherited R758X nonsense mutation of CYLD. Affected members of this family manifest a relatively mild tumour phenotype; the largest tumour was only 30 mm in diameter. Thus far, there is no evident genotype-phenotype relationship in cylindromatosis, although the number of families reported with both phenotypic and genotypic data remains small.
authors.affiliation: Department of Dermatology, Saiseikai Tondabayashi Hospital, 1-3-36 Koyodai, Tondabayashi, Osaka 584-0082, Japan. naokioiso@msic.med.osaka-cu.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Oiso
authors.forename: N
authors.initials: N
authors.lastname: Mizuno
authors.forename: K
authors.initials: K
authors.lastname: Fukai
authors.forename: K
authors.initials: K
authors.lastname: Nakagawa
authors.forename: M
authors.initials: M
authors.lastname: Ishii
mesh_terms: D000328:Adult; D003528:Carcinoma, Adenoid Cystic / Q000235:genetics* / Q000473:pathology; D018389:Codon, Nonsense / Q000235:genetics*; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D009363:Neoplasm Proteins; D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD