Piebaldism: a clinical survey and mutation analysis in a pedigree
10.3760/cma.j.issn.0412-4030.2011.04.002
- VernacularTitle:斑驳病一家系调查及基因突变研究
- Author:
Bin YANG
;
Qin YANG
;
Hongbo YAN
;
Ting SUN
;
Ning WU
- Publication Type:Journal Article
- Keywords:
Piebaldism;
Gene,KIT;
Mutational analysis;
Genealogy
- From:
Chinese Journal of Dermatology
2011;44(4):229-231
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical features of and gene mutations in a Chinese Han pedigree with piebaldism. Methods Clinical data were collected with informed consent from a pedigree with piebaldism, processed and documented. A clinical genetic analysis was conducted and pedigree chart was drawn. Genomic DNA was extracted from the peripheral blood of 14 patients and 40 unaffected individuals in the family as well as 50 unrelated human controls, and subjected to the amplification of 21 exons and flanking sequences of the KIT gene by PCR. Sequence analysis was performed by Mutation SurveyorTM. Results There were 73 members in the family, and of them, 14 were diagnosed with piebaldism according to typical clinical features. Piebaldism was inherited in an autosomal dominant pattern in this family. A heterozygous 4-base insertion mutation 1900insATGA in exon 13 of KIT gene was identified in all the 14 affected family members, which resulted in a frame-shift mutation at codon 634 and produced a premature translation termination codon. This mutation was undetected in either the unaffected family members or unrelated controls. Up to the time of this writing, this mutation had not been previously reported. Conclusion The novel mutation 1900insATGA in the KIT gene may be the cause of clinical phenotype of piebaldism in the family.
