A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma

作者：Wang, Fu-Xi^*; Yang, Li-Jia; Li, Ming; Zhang, Shu-Lin; Zhu, Xiao-Hong

来源：Archives of Dermatological Research, 2010, 302(1): 67-70.

DOI：10.1007/s00403-009-1003-1

• Multiple familial trichoepithelioma (MFT)
• Mutation analysis
• CYLD gene

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.

• 出版日期2010-1
• 单位南京医科大学; 深圳市第二人民医院