Abstract:

Objective To make a molecular genetic analysis in a Chinese family with piebaldism, in order to find the causative mutation of this disease. Methods DNA and RNA were extracted from blood samples of the proband and other 13 members in this family. Ploymerase chain reaction（PCR）, reverse transcription PCR and DNA sequencing were performed to detect the mutation of kit gene. Results A novel heterozygous mutation c.2472 + 1G > A in kit gene, which leads to the loss of 3′ splicing site in exon 17 followed by the absence of exon 17, was found in all affected members, but not in an unaffected member in the family. Conclusion The novel mutation c.2472 + 1G > A may be associated with piebaldism initiation in this family.

Key words: Piebaldism, KIT, slicing site mutation