Abstract

Background: Piebaldism (OMIM #172800) is a rare autosomal dominant genodermatosis characterized by congenital poliosis and stable patches of leucoderma. Piebaldism is caused by mutations in the KIT and SNAI2 genes. The most common mutations are detected in the KIT gene.
Case presentation: A 5-year-old boy, who was followed-up for aphakic glaucoma after congenital cataract surgery, was consulted to the medical genetics and dermatology departments due to premature graying of the hair, white forelock in the frontal region of the scalp, whitening in the inner part of the eyebrows and eyelashes and patchy leukoderma with hyperpigmented islands inside on the extremities and trunk. DNA sequencing revealed a heterozygous missense c.1861G>A mutation in the KIT gene. Mutation was evaluated using in silico 3D-structure analysis and bioinformatics tools
Conclusion: KIT gene has a critical role in melanoblast migration, proliferation, differentiation and survival and molecular dynamics simulation and modeling proved that this variant inhibits the migration of melanoblasts and melanocytes by reducing the enzymatic activity of the KIT protein.

Key words: Piebaldism, KIT Gene, Congenital Cataract, Aphakic Glaucoma, Molecular Dynamics, Case report.