E. Kerkeni , S. Boubaker , S. Sfar , M. Bizid , H. Besbes , S. Bouaziz , N. Ghedira , A. Amara , W. Manoubi , M. Gribaa , K. Monastiri
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引用次数: 4
Abstract
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 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.
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