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A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a C hinese family
Author(s) -
Wang H. J.,
Lin Z. M.,
Zhang J.,
Yin J. H.,
Yang Y.
Publication year - 2014
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12225
Subject(s) - beijing , china , medicine , dermatology , family medicine , library science , history , archaeology , computer science
Summary 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 .