title: Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
abstract: BACKGROUND
  Wolff-Parkinson-White (WPW) syndrome is an autosomal-dominant heart disease characterized by an accessory pathway that arises from an aberrant conduction from the atria to the ventricles. Several mutations within the PRKAG2 gene were shown to be responsible for WPW. This gene encodes the γ2 regulatory subunit of adenosine monophosphate (AMP)-activated protein kinase, which functions as a metabolic sensor in cells, responding to cellular energy demands.
  
  
  METHODS
  This first study of WPW in a North African population comprises the clinical and genetic investigation of 3 Tunisian families, including 11 affected members. The involvement of the PRKAG2 and NKX2-5 genes was investigated.
  
  
  RESULTS
  Mutation screening showed that with the exception of two already reported single-nucleotide polymorphisms, no mutations were detected within the coding region of PRKAG2 or in the NKX2-5 gene.
  
  
  CONCLUSIONS
  This study provides further evidence of the genetic heterogeneity of WPW.
authors.affiliation: Research Unit UR04/SP03 for the Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Belvédère, Tunisia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Nouira
authors.forename: Fatma
authors.initials: F
authors.lastname: Ouarda
authors.forename: Cherine
authors.initials: C
authors.lastname: Charfeddine
authors.forename: Imen
authors.initials: I
authors.lastname: Arfa
authors.forename: Houyem
authors.initials: H
authors.lastname: Ouragini
authors.forename: Fekria
authors.initials: F
authors.lastname: Abid
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics; D000293:Adolescent; D002648:Child; D002669:Child Welfare; D004594:Electrophysiology; D005260:Female; D014644:Genetic Variation; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics; D014416:Tunisia / Q000453:epidemiology; D014927:Wolff-Parkinson-White Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors; C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases