title: A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.
abstract: Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast cells. Our report expands the knowledge of correlations between the genotype of KIT mutations and the phenotype of DCM.
authors.affiliation: Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
authors.forename: H J
authors.initials: HJ
authors.lastname: Wang
authors.forename: Z M
authors.initials: ZM
authors.lastname: Lin
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: J H
authors.initials: JH
authors.lastname: Yin
authors.forename: Y
authors.initials: Y
authors.lastname: Yang
mesh_terms: D000328:Adult; D044466:Asian People; D002681:China; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D034701:Mastocytosis, Cutaneous / Q000235:genetics*; D010641:Phenotype; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit