A novel KIT gene mutation results in piebaldism.
- Author:
Wei-ping DENG
1
;
Chun LU
;
Guo-xing ZHU
;
Qun-di LIN
;
Pei-ying FENG
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Child; DNA Mutational Analysis; Female; Humans; Male; Mutation; Piebaldism; genetics; Polymerase Chain Reaction; Proto-Oncogene Proteins c-kit; genetics
- From: Chinese Journal of Medical Genetics 2005;22(5):545-547
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect gene mutation in proband and his mother from a family with piebaldism.
METHODSDiagnosis 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.
RESULTSG1833A 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.
CONCLUSIONThe mutation of V604I is the cause of clinical phenotype of the family with piebaldism.
