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CYLD mutation causes multiple familial trichoepithelioma in three Chinese families

2004; Wiley; Volume: 23; Issue: 4 Linguagem: Inglês

10.1002/humu.9231

1098-1004

Guangyong Zheng, Landian Hu, Wei Huang, Kaide Chen, Xuejun Zhang, Sen Yang, Jianfang Sun, Yiqun Jiang, Guangbin Luo, Xiangyin Kong,

Ear and Head Tumors

Human MutationVolume 23, Issue 4 p. 400-400 Mutation in BriefFree Access CYLD mutation causes multiple familial trichoepithelioma in three Chinese families†‡ Guangyong Zheng, Guangyong Zheng Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China These authors contribute equally to this work.Search for more papers by this authorLandian Hu, Landian Hu Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China These authors contribute equally to this work.Search for more papers by this authorWei Huang, Wei Huang Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of ChinaSearch for more papers by this authorKaide Chen, Kaide Chen The First Hospital of Jiande County, Zhejiang Province, The People's Republic of ChinaSearch for more papers by this authorXuejun Zhang, Xuejun Zhang Insititute of Dermatology, Anhui Medical University, Hefei, People's Republic of ChinaSearch for more papers by this authorSen Yang, Sen Yang Insititute of Dermatology, Anhui Medical University, Hefei, People's Republic of ChinaSearch for more papers by this authorJianfang Sun, Jianfang Sun Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, People's Republic of ChinaSearch for more papers by this authorYiqun Jiang, Yiqun Jiang Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, People's Republic of ChinaSearch for more papers by this authorGuangbin Luo, Guangbin Luo Department of Genetics, Case Western Reserve University; Cleveland, OhioSearch for more papers by this authorXiangyin Kong, Corresponding Author Xiangyin Kong xykong@sibs.ac.cn Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China State Key Laboratory of Medical Genomics, Shanghai, People's Republic of ChinaHealth Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai 200025, The People's Republic of ChinaSearch for more papers by this author Guangyong Zheng, Guangyong Zheng Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China These authors contribute equally to this work.Search for more papers by this authorLandian Hu, Landian Hu Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China These authors contribute equally to this work.Search for more papers by this authorWei Huang, Wei Huang Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of ChinaSearch for more papers by this authorKaide Chen, Kaide Chen The First Hospital of Jiande County, Zhejiang Province, The People's Republic of ChinaSearch for more papers by this authorXuejun Zhang, Xuejun Zhang Insititute of Dermatology, Anhui Medical University, Hefei, People's Republic of ChinaSearch for more papers by this authorSen Yang, Sen Yang Insititute of Dermatology, Anhui Medical University, Hefei, People's Republic of ChinaSearch for more papers by this authorJianfang Sun, Jianfang Sun Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, People's Republic of ChinaSearch for more papers by this authorYiqun Jiang, Yiqun Jiang Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, People's Republic of ChinaSearch for more papers by this authorGuangbin Luo, Guangbin Luo Department of Genetics, Case Western Reserve University; Cleveland, OhioSearch for more papers by this authorXiangyin Kong, Corresponding Author Xiangyin Kong xykong@sibs.ac.cn Health Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, The People's Republic of China State Key Laboratory of Medical Genomics, Shanghai, People's Republic of ChinaHealth Science Center, Shanghai Institutes of Biological Science, Chinese Academy of Science and Shanghai Second Medical University, Shanghai 200025, The People's Republic of ChinaSearch for more papers by this author First published: 10 March 2004 https://doi.org/10.1002/humu.9231Citations: 47 † Communicated by David Yandell ‡ Online Citation: Human Mutation, Mutation in Brief #702 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/702.pdf AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat 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. © 2004 Wiley-Liss, Inc. Citing Literature Volume23, Issue4April 2004Pages 400-400 RelatedInformation