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Therapeutics and Clinical Risk Management Volume 11, 2015 - Issue
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Case Report

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Wei-Xue Jia1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Xue-Min Xiao1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Jian-Bing Wu1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Yi-Ping Ma1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Yi-Ping Ge1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Qi Li1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Qiu-Xia Mao1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
&
Cheng-Rang Li1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, ChinaCorrespondence[email protected]
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Pages 635-638 | Published online: 21 Apr 2015

Figures & data

Figure 1 Skin lesions and histopathology.

Notes: (A) The proband and her son; (B) back of the proband; (C) the left axillary region of the proband (Crowe’s sign); (D) the inguinal region of the proband (Crowe’s sign); (E) the forehead of the son; (F) the back of the son; (G) histopathology of depigmented lesion of the proband’s right upper arm (HE ×20).
Abbreviation: HE, hematoxylin-eosin staining.
Figure 1 Skin lesions and histopathology.

Figure 2 Mutation of the KIT gene.

Notes: (A) The proband’s KIT genomic sequence coding base numbers 2424–2438, which showed c.2431T>G heterozygous mutation; (B) the son’s KIT genomic sequence coding base numbers 2424–2438, which showed c.2431T>G heterozygous mutation; (C) the equivalent of KIT in a normal individual.
Figure 2 Mutation of the KIT gene.

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