title: A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
abstract: Multiple familial trichoepithelioma (MFT, OMIM 601606) is an autosomal dominantly inherited disease. It is characterized by numerous skin-colored papules on the central face. Pathogenic mutations in the CYLD gene have been identified. In this report, we identified a novel mutation of CYLD gene in a Chinese family with MFT. It is a novel heterozygous nucleotide G-->A transition at position 2,317 in exon 17 of the CYLD gene. Our study expands the database on the CYLD gene mutations in MFT.
authors.affiliation: Department of Dermatology, Shenzhen Second People's Hospital, 3002 Sungang West Road, 518039 Shenzhen, Guangdong, China. szwfx@sina.com
authors.forename: Fu-Xi
authors.initials: FX
authors.lastname: Wang
authors.forename: Li-Jia
authors.initials: LJ
authors.lastname: Yang
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Zhang
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Zhu
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002681:China; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005190:Family; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD