[A novel KIT gene mutation results in piebaldism].
OBJECTIVE
To detect gene mutation in proband and his mother from a family with piebaldism.


METHODS
Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.


RESULTS
G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.


CONCLUSIONS
The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.
Deng
Wei-ping
WP
Department of Dermatology, Guangdong Provincial People's HospitalìGuangzhou, PR China.
Lu
Chun
C
Zhu
Guo-xing
GX
Lin
Qun-di
QD
Feng
Pei-ying
PY
D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D019009:Proto-Oncogene Proteins c-kit