Piebaldism: An Iranian case report carrying minor allele at rs999020 and rs1008658 SNPs of KIT gene

Abstract Piebaldism, known as partial albinism, is a rare autosomal dominant congenital disorder of pigmentation resulting from mutations in the KIT gene. We reported an Iranian 40-year-old male with piebaldism characterized by hypopigmented skin lesions on his face and limbs. The aim of this research is to investigate novel possible mutations associated with the piebaldism. Genomic DNA samples of the patient and control were extracted from ear fibroblast and peripheral blood cells, respectively. Amplification and sequencing of KIT gene were performed by polymerase chain reaction (PCR) using designed primers and Sanger sequencings. Sequencing revealed two single nucleotide polymorphisms (SNPs) in the introns of the KIT gene in Iranian piebaldism patient which were not found in the control. Heterozygous rs999020 and homozygous rs1008658 were found in introns 1 and 17 of the KIT gene, respectively. Our in-silico study characterized the functionality of these SNPs. To put in a nutshell, this study suggested that two rs999020 and rs1008658 may be associated with piebaldism causal mutations/variants.