Article
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
American journal of human genetics - 5 Mar 2015
Lin Zhimiao, Zhao Jiahui, Nitoiu Daniela, Scott Claire A, Plagnol Vincent, Smith Frances J D, Wilson Neil J, Cole Christian, Schwartz Mary E, McLean W H Irwin, Wang Huijun, Feng Cheng, Duo Lina, Zhou Eray Yihui, Ren Yali, Dai Lanlan, Chen Yulan, Zhang Jianguo, Xu Xun, O'Toole Edel A, Kelsell David P, Yang Yong
Abstract excerpt
Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generalized peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, which we propose to be given the acronym PLACK syndrome. In affected individuals...
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