Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis

• Published in: Scientific reports Vol. 6; no. 1; p. 24226
• Main Authors: Wang, Jiuxiang, Liu, Ying, Liu, Fei, Huang, Changzheng, Han, Shanshan, Lv, Yuexia, Liu, Chun-Jie, Zhang, Su, Qin, Yayun, Ling, Lei, Gao, Meng, Yu, Shanshan, Li, Chang, Huang, Mi, Liao, Shengjie, Hu, Xuebin, Lu, Zhaojing, Liu, Xiliang, Jiang, Tao, Tang, Zhaohui, Zhang, Huiping, Guo, An-Yuan, Liu, Mugen
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 07.04.2016; Nature Publishing Group
• Subjects: 13/109; 13/2; 13/51; 14/1; 14/19; 38/109; 45; 631/337; 692/308/2056; 82; 82/51; 82/83; Adolescent; Adult; Apoptosis; Asian People - genetics; Base Sequence; Cell Line; Child; Child, Preschool; China; DNA Mutational Analysis; Epidermis; Family Health; Female; Genes, Dominant; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Genetic variance; Haplotypes; Humanities and Social Sciences; Humans; Keratinization; Keratinocytes; Localization; Male; Mevalonate pathway; Mevalonic acid; Microscopy, Confocal; multidisciplinary; Mutation; Pedigree; Phosphomevalonate kinase; Phosphotransferases (Phosphate Group Acceptor) - genetics; Phosphotransferases (Phosphate Group Acceptor) - metabolism; Porokeratosis - enzymology; Porokeratosis - ethnology; Porokeratosis - genetics; Science; Science (multidisciplinary); Young Adult; China

Disseminated superficial porokeratosis (DSP) is a rare keratinization disorder of the epidermis. It is characterized by keratotic lesions with an atrophic center encircled by a prominent peripheral ridge. We investigated the genetic basis of DSP in two five-generation Chinese families with members d...