Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma

Australasian Journal of Dermatology

Volumn 52, Issue 2, 2011, Pages 146-147

  Chen, Mingfei ^a,c   Liu, Hong ^a,c   Fu, Xi'an ^a,c   Yu, Yongxiang ^a,c   Yu, Gongqi ^a,c   Liu, Huaxu ^a,c   Tian, Hongqing ^b,d   Zhou, Guizhi ^a,d   Zhang, Dizhan ^b,d   Wang, Guangjin ^b,d   Zhang, Furen ^a,b,c,d  

^a SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG FIRST MEDICAL UNIVERSITY   (China)

^b SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^c Shandong Provincial Key Lab for Dermatovenereology   (China)

^d Shandong Provincial Medical Centre for Dermatovenereology   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BROOKE SYNDROME; CHINESE; CHROMOSOME 16Q; CODON; CYLINDROMA; EXON; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HIDRADENOMA; HISTOPATHOLOGY; HUMAN; INTRON; LETTER; MULTIPLE FAMILIAL TRICHOEPITHELIOMA; NONSENSE MUTATION; TRICHOEPITHELIOMA;

EID: 79958205944     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2011.00763.x     Document Type: Letter

References (5)

1. Zhang XJ, Liang YH, He PP et al. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J. Invest. Dermatol. 2004; 122: 658-64.
2. Bignell GR,Warren W, Seal S et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat. Genet. 2000; 25: 160-5. (Pubitemid 30394985)
3. Hu G, Onder M, Gill M et al. A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. J. Invest. Dermatol. 2003; 121: 732-4. (Pubitemid 37239114)
4. Zheng G, Hu L, HuangWet al. CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. Hum. Mutat. 2004; 23: 400.
5. Trompouki E, Hatzivassiliou E, Tsichritzis T et al. CYLD is a deubiquitinatingenzyme that negatively regulates NF-kappaB activation by TNFR family members (see comment). Nature 2003; 424: 793-6. (Pubitemid 37021710)