title: Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma.
abstract: Multiple familial trichoepithelioma (MFT) is an autosomal dominant skin disease characterized by the presence of many small benign tumors with pilar differentiation predominantly on the face. The first locus has been previously mapped to chromosome 9p21, but no gene for MFT has been identified to date. To identify the disease gene in a large Chinese family, we initially performed linkage analysis with microsatellite markers from 9p21, but failed to confirm the linkage to this region. Previous publications showed MFT and familial cylindromatosis (FC) can occur within one family and in a single person. Therefore, we speculated that the cylindromatosis gene (CYLDI gene) responsible for FC may be related to the pathogenesis of MFT. In view of that, we genotyped all available individuals using 11 microsatellite markers spanning the CYLDI gene region at 16q12-q13. We identified the linkage of MFT to this region. Mutation analysis in the CYLDI gene detected a frameshift mutation, designated as c.2355-2358delCAGA. The study firstly identified the cylindromatosis gene responsible for MFT and showed that different mutations of the CYLDI gene can give rise to distinct clinical and histological expression such as FC and MFT.
authors.affiliation: Institute of Dermatology, Anhui Medical University, Hefei, China. ayzxj@mail.hf.ah.cn
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Liang
authors.forename: Ping-Ping
authors.initials: PP
authors.lastname: He
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Wang
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Chen
authors.forename: Wen-Tao
authors.initials: WT
authors.lastname: Yuan
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D016147:Genes, Tumor Suppressor; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018295:Neoplasms, Basal Cell / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD