Detection of KIT gene of a case with serious phenotypes of piebaldism
- VernacularTitle:一例重型斑驳病患者的KIT基因突变检测
- Author:
ping Wei DENG
1
;
Chen PENG
;
hua Min CHEN
;
xia Shao DAI
Author Information
1. 广东省医学科学院//广东省人民医院皮肤科
- Keywords:
piebaldism;
KIT gene;
SLUG gene;
de novo mutation
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2017;38(6):949-954
- CountryChina
- Language:Chinese
-
Abstract:
[Objective]To investigate the mutations of KIT gene and SLUG(SNAI2)gene in one patients with piebaldism in Chi?na.[Methods]All coding exons and exon-intron boundaries of KIT gene and SLUG gene were amplified by PCR. The PCR products were sequenced. The DNA samples from 50 normal subjects were also sequenced for control.[Results]The novel mutation,c.860T>A (p.V287E),was detected in patient. This mutation was absent in his parents and the controls ,indicating a de novo mutation. The de?tection result of all coding exons and exon-intron boundaries of SLUG gene was normal.This p.V287E mutation was located in the ex?tracellular ligand-bindingdomain(ectodomain)of KIT,which may generate clash with E249 and disrupt the conformation ofβD andβD/βE of D3 that required for SCF(stem cell factor)binding.[Conclusion]We have identified a novel mutation of KIT gene,c.860T>A(p.V287E),which is probably associated with serious phenotypes of piebaldism.
