Research of genomic loci of piebaldism

Abstract

Research of Genomic Loci of Piebaldism Piebaldism is a rare, autosomal dominant genetic disorder, characterised by the congenital absence of melanocytes in the affected areas of the skin and hair. KIT and SNAI2 genes, which coding proteins are involved in differentiation of melanocytes and their migration from neural crest, are known to be associated with this condition. The main focus of the study was to determine possible molecular causes for piebald phenotype in three clinically affected patients. Sequencing of KIT gene’s coding exons was performed for two of them, and the results of the third patient was collected and analysed after comparative genome hybridization analysis. For one of the patients, a likely pathogenic novel missense variant NM_000222:c1960G>A was identified in exon 13 of the KIT gene. Furthermore, 2.7 Mb deletion in 4q12 was detected in another patient, which provides an additional evidence that the haploinsufficiency of the KIT gene is associated with piebaldism