Objective: The present study is aimed at performing the molecular characterization of a Tunisian family with piebaldism.
Methods: As the proband and 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 her 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.
Keywords: Analyse mutationnelle; Domaine tyrosine kinase; Gène KIT; KIT gene; Mutation analysis; Piebaldism; Piébaldisme; Tyrosine kinase domain.
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