1.Analysis of KIT mutations in five patients from two Han Chinese pedigrees affected with Piebaldism.
Yongxian LAI ; Zijun ZHAO ; Qian ZHOU ; Lude ZHU ; Linglin ZHANG ; Guolong ZHANG ; Yicheng TANG ; Xiuli WANG
Chinese Journal of Medical Genetics 2018;35(3):366-370
OBJECTIVETo screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.
METHODSClinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.
RESULTSTwo missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.
CONCLUSIONMutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.
Result Analysis
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