title: [Same genotype and different phenotypes in a family with PRKAG2 gene mutation].
abstract: OBJECTIVE
  The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.
  
  
  METHODS
  Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).
  
  
  RESULTS
  Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.
  
  
  CONCLUSIONS
  Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.
authors: Section of Cardiology, Second Affiliated Hospital of Nanchang University, Nanchang 330006, China.
authors: Kui
authors: K
authors: Hong
authors: Antonio
authors: A
authors: Oliva
authors: Xiao-shu
authors: XS
authors: Cheng
authors: Pedro
authors: P
authors: Brugada
authors: Joseph
authors: J
authors: Brugada
authors: Eduardo-back
authors: EB
authors: Sternick
authors: Ramon
authors: R
authors: Brugada
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D001938:Brazil; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011226:Pre-Excitation Syndromes / Q000209:etiology
chemical_list: C526223:PRKAG2 protein, human; D055372:AMP-Activated Protein Kinases