title: CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.
abstract: Multiple familial trichoepithelioma (MFT) and familial cylindromatosis are two clinically distinct cancer syndromes. MFT patients developed mostly trichoepithelioma in the face while cylindromatosis patients developed cylindromas predominantly (approximately 90%) on the head and neck. However, multiple familial trichoepithelioma is occasionally associated with familial cylindromatosis while cylindromatosis patients can also develop trichoepithelioma. This has led to the speculation that the 2 types of dermatoses may be caused by dysfunction of a common pathway. Previously, a candidate MTF locus has been mapped to 9p21 while disease gene for familial cylindromatosis, the CYLD gene located on 16q21-13 has been identified. Here, we show that mutations in the CYLD gene are also the genetic basis for three different Chinese families with MFT. Sequence analysis reveal a single nucleotide deletion, c.1462delA (P.Ile488fsX9) in exon 9, a nonsense mutation, c.2128C>T (p. Gln710X) in exon 17, and a missense mutation, c.2822A>T (p. Asp941Val) in exon 21 in each of the three families respectively. This provides direct evidence that the mutations in CYLD can cause two clinically distinct cancer syndromes.
authors.affiliation: Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China.
authors.forename: Guangyong
authors.initials: G
authors.lastname: Zheng
authors.forename: Landian
authors.initials: L
authors.lastname: Hu
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Kaide
authors.initials: K
authors.lastname: Chen
authors.forename: Xuejun
authors.initials: X
authors.lastname: Zhang
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Jianfang
authors.initials: J
authors.lastname: Sun
authors.forename: Yiqun
authors.initials: Y
authors.lastname: Jiang
authors.forename: Guangbin
authors.initials: G
authors.lastname: Luo
authors.forename: Xiangyin
authors.initials: X
authors.lastname: Kong
mesh_terms: D002681:China; D002899:Chromosomes, Human, Pair 9; D000074749:Deubiquitinating Enzyme CYLD; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009154:Mutation; D018295:Neoplasms, Basal Cell / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD