A novel KIT gene mutation from a family with piebaldism in the southern part of China.
- Author:
Wei-ping DENG
1
;
Yue-shen HUANG
;
Chun LU
;
Wei LAN
;
Guo-xing ZHU
;
Qun-di LIN
;
Pei-ying FENG
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; China; Female; Genetic Predisposition to Disease; Humans; Male; Mutation, Missense; Pedigree; Piebaldism; genetics; Polymerase Chain Reaction; Proto-Oncogene Proteins c-kit; genetics; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2005;22(6):668-670
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the gene mutation of a family with piebaldism.
METHODSDiagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.
RESULTSG 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.
CONCLUSIONThe mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.
