title: A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.
abstract: Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by numerous skin-coloured papules on the central face. Mutations in the CYLD gene, which is also the gene responsible for familial cylindromatosis, have been reported recently. Recent studies indicate that CYLD is a tumour-suppressor gene. The CYLD protein is a negative regulator of the activation of transcription factor nuclear factor-kappaB, and loss of CYLD contributes to oncogenesis. We report a novel splicing mutation (IVS12 + 1 G-->A) in the CYLD gene in a Taiwanese pedigree with MFT, and discuss new developments in treatment options.
authors.affiliation: Department of Dermatology, National Cheng-Kung University Hospital and College of Medicine, National Cheng-Kung University, Tainan, Taiwan.
authors.forename: T-M
authors.initials: TM
authors.lastname: Huang
authors.forename: S-C
authors.initials: SC
authors.lastname: Chao
authors.forename: J Y-Y
authors.initials: JY
authors.lastname: Lee
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D002648:Child; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005153:Facial Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D016147:Genes, Tumor Suppressor; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D018295:Neoplasms, Basal Cell / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013624:Taiwan; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD