title: 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 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.
  
  
  CONCLUSIONS
  Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism.
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia. Electronic address: emnakerkeni@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Kerkeni
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Boubaker
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Sfar
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of Intensive care and Neonatal Medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Bizid
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of Intensive care and Neonatal Medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Besbes
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Bouaziz
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Ghedira
authors.affiliation: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: A
authors.initials: A
authors.lastname: Amara
authors.affiliation: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: W
authors.initials: W
authors.lastname: Manoubi
authors.affiliation: Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Gribaa
authors.affiliation: Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of Intensive care and Neonatal Medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: K
authors.initials: K
authors.lastname: Monastiri
mesh_terms: D019943:Amino Acid Substitution; D020134:Catalytic Domain; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics*; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014416:Tunisia
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit
keywords: Analyse mutationnelle; Domaine tyrosine kinase; Gène KIT; KIT gene; Mutation analysis; Piebaldism; Piébaldisme; Tyrosine kinase domain