A novel missense KIT mutation causing piebaldism in one Chinese family associated with cafe-au-lait macules and intertriginous freckling.

ABSTRACT: Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in

SUBMITTER: Jia WX 

PROVIDER: S-EPMC4410829 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature