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Journal articles
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.
https://hal-riip.archives-ouvertes.fr/pasteur-00612166
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Thursday, July 28, 2011 - 11:33:12 AM
Last modification on : Wednesday, August 11, 2021 - 1:52:04 PM
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Thursday, July 28, 2011 - 11:33:12 AM
Last modification on : Wednesday, August 11, 2021 - 1:52:04 PM