[A novel KIT gene mutation from a family with piebaldism in the southern part of China].
OBJECTIVE
To detect the gene mutation of a family with piebaldism.


METHODS
Diagnosis 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.


RESULTS
G 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.


CONCLUSIONS
The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.
Deng
Wei-ping
WP
Department of Dermatology, Guangdong Provincial People's Hospital, Guangzhou, Guangdong, P. R. China.
Huang
Yue-shen
YS
Lu
Chun
C
Lan
Wei
W
Zhu
Guo-xing
GX
Lin
Qun-di
QD
Feng
Pei-ying
PY
D000328:Adult; D001483:Base Sequence; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017422:Sequence Analysis, DNA
D019009:Proto-Oncogene Proteins c-kit