New KIT mutations in patients with piebaldism.
BACKGROUND
Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism.


OBJECTIVE
To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder.


METHODS
PCR-direct-sequencing technique using genomic DNA from peripheral leukocytes.


RESULTS
We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism. These include four frameshift mutations: 142delG, 1768-1769delAG, 2139delC, 2246-2249delAAAG, and two missense mutations: M541L, Y870C.


CONCLUSIONS
These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.
Murakami
Tomoko
T
Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi Abeno-ku, Osaka 545-8585, Japan. m5121277@msic.med.osaka-cu.ac.jp
Fukai
Kazuyoshi
K
Oiso
Naoki
N
Hosomi
Naoko
N
Kato
Atsushi
A
Garganta
Cheryl
C
Barnicoat
Angela
A
Poppelaars
Francis
F
Aquaron
Robert
R
Paller
Amy S
AS
Ishii
Masamitsu
M
D000328:Adult; D002675:Child, Preschool; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D019009:Proto-Oncogene Proteins c-kit