Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families

Autor: Fatma Ouarda, Cherine Charfeddine, Sonia Abdelhak, Imen Arfa, Houyem Ouragini, Fekria Abid, Sonia Nouira
Přispěvatelé: Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Department of Cardiology, Rabta Hospital
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Male
Accessory pathway
AMP-Activated Protein Kinases
030204 cardiovascular system & hematology
Critical Care and Intensive Care Medicine
0302 clinical medicine
MESH: Child
Coding region
MESH: AMP-Activated Protein Kinases
MESH: Genetic Variation
Child
Genetics
0303 health sciences
education.field_of_study
MESH: Wolff-Parkinson-White Syndrome
MESH: Electrophysiology
MESH: Transcription Factors
Pedigree
3. Good health
Electrophysiology
White (mutation)
MESH: Young Adult
Homeobox Protein Nkx-2.5
Female
Cardiology and Cardiovascular Medicine
MESH: Tunisia
MESH: Child Welfare
Pulmonary and Respiratory Medicine
Tunisia
Adolescent
MESH: Pedigree
Population
Child Welfare
Biology
Homeobox protein Nkx-2.5
Young Adult
03 medical and health sciences
Genetic variation
MESH: Homeodomain Proteins
Humans
education
Gene
030304 developmental biology
Homeodomain Proteins
MESH: Adolescent
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Humans
Genetic heterogeneity
Genetic Variation
MESH: Male
Wolff-Parkinson-White Syndrome
MESH: Microsatellite Repeats
MESH: Female
Microsatellite Repeats
Transcription Factors
Zdroj: Heart and Lung
Heart and Lung, Elsevier, 2010, 39 (5), pp.432-6. ⟨10.1016/j.hrtlng.2009.10.012⟩
ISSN: 0147-9563
1527-3288
DOI: 10.1016/j.hrtlng.2009.10.012⟩
Popis: International audience; 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.
Databáze: OpenAIRE
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