HGM2002 Poster Abstracts: 8. Disease Mechanisms
POSTER NO: 479
CYDL mutation causes familial multiple trichoepithelioma in a Chinese family
1Guangyong Zheng, 1Wei Huang, 2Kaide Chen, 1Landian Hu, 1Guoping Zhao, 1Xiangyin Kong
Familial multiple trichoepithelioma (FMT, MIM 601606) is an autosomal dominant skin disorder characterized by appearance of grouped nodules and papules on the face especially on the upper lip and nasolabial folds (1-2). Here, we found a single nucleotide deletion mutation in exon 10 of CYLD gene in a multiple trichoepithelioma (FMT, MIM 601606) family that causes a reading frame shift. Since CYLD is a susceptibility gene for familial cylindromatosis (3), our finding establishes a link between familial multiple trichoepithelioma and familial cylindromatosis.
Other abstracts in same session