Molecular characterization of piebaldism in a Tunisian family

Abstract Objective The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism. Methods As the probandand her mother showed a severe phenotype, we first chose to screen exons 10, 11, 12, 13, 16, 17 and 18 of the KIT proto-oncogene by direct sequencing. Results Direct sequencing analysis showed a C to T substitution at 1939 in exon 13 (c.1939C>T) in heterozygous state in the patient and his mother. The mutation was not found in their unaffected family members or normal controls. Conclusion Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism.