Identification of a novel KIT mutation in a Chinese family affected with piebaldism.
- VernacularTitle:一个斑驳病家系的KIT基因新突变鉴定
- Author:
Rongrong WANG
1
;
Shi SHU
;
Yi ZHANG
;
Wei LUO
;
Xue ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Amino Acid Sequence; Asian Continental Ancestry Group; genetics; Base Sequence; China; DNA Mutational Analysis; methods; Exons; genetics; Family Health; Female; Genetic Predisposition to Disease; ethnology; genetics; Heterozygote; Humans; Infant; Introns; genetics; Male; Mutation, Missense; Pedigree; Phenotype; Piebaldism; ethnology; genetics; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Proto-Oncogene Proteins c-kit; genetics; Sequence Homology, Amino Acid
- From: Chinese Journal of Medical Genetics 2016;33(5):637-640
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the pathogenic mutation underlying piebaldism in a Chinese family.
METHODSA three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.
RESULTSA heterozygous missense mutation, c.2585T>C, was identified in exon 18 of the KIT gene. The mutation, together with a c.2586G>C polymorphism, has led to substitution of Leucine by Proline at amino acid residue 862 (p.Leu862Pro) of the mast/stem cell growth factor receptor KIT. The same mutation was detected in all affected family members but not in dbSNP142, the 1000 Genomes draft database, or the Human Gene Mutation Database. No mutation of the SNAI2 gene was found.
CONCLUSIONThe c.2585T>C (p.Leu862Pro) mutation in the KIT gene probably underlies the piebaldism phenotype in this family.
