Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
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.
Nouira
Sonia
S
Research Unit UR04/SP03 for the Molecular Investigation of Genetic Orphan Diseases, Institut Pasteur de Tunis, Tunis, Belvédère, Tunisia.
Ouarda
Fatma
F
Charfeddine
Cherine
C
Arfa
Imen
I
Ouragini
Houyem
H
Abid
Fekria
F
Abdelhak
Sonia
S
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
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