Molecular characterization of piebaldism in a Tunisian family

Pathol Biol (Paris). 2015 Jun;63(3):113-6. doi: 10.1016/j.patbio.2015.03.004. Epub 2015 Apr 21.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Catalytic Domain
  • Exons / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mutation, Missense*
  • Phenotype
  • Piebaldism / genetics*
  • Point Mutation*
  • Protein Structure, Tertiary
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-kit / genetics*
  • Sequence Analysis, DNA
  • Tunisia


  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-kit