Identification of a Gene Responsible for Familial Wolff–Parkinson–White Syndrome

• Published in: The New England journal of medicine Vol. 344; no. 24; pp. 1823 - 1831
• Main Authors: Gollob, Michael H, Gollob, Tanya, Green, Martin S, Tang, Anthony S.-L, Karibe, Akihiko, Hassan, Al-Sayegh, Ahmad, Ferhaan, Lozado, Ryan, Shah, Gopi, Fananapazir, Lameh, Bachinski, Linda L, Tapscott, Terry, Gonzales, Oscar, Begley, David, Mohiddin, Saidi, Roberts, Robert
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 14.06.2001
• Subjects: AMP-Activated Protein Kinases; Base Sequence; Biological and medical sciences; Cardiac arrhythmia; Cardiovascular system; chromosome 7; Chromosome Mapping; Chromosomes, Human, Pair 7; Family medical history; Female; Genes; Genes, Dominant; Genetics; Genomics; Haplotypes; Humans; Investigative techniques, diagnostic techniques (general aspects); Kinases; Lod Score; Male; Medical sciences; Multienzyme Complexes - genetics; Multienzyme Complexes - metabolism; Mutation, Missense; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Pedigree; PRKAG2 gene; Protein-Serine-Threonine Kinases - genetics; Protein-Serine-Threonine Kinases - metabolism; Wolff-Parkinson-White syndrome; Wolff-Parkinson-White Syndrome - genetics; Human; Immunopathology; Preexcitation ventricular syndrome; Prevalence; Arrhythmia; Family study; Cardiovascular disease; Chromosome; Wolff Parkinson White syndrome; Conduction disorder; Excitability disorder; Morbidity; Etiology; Heart disease; Clinical biology; Genetics; Genetic identification
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM200106143442403

Probable causative mutation was identified in a protein kinase gene (PRKAG2) on chromosome 7. The Wolff–Parkinson–White syndrome is the second most common cause of paroxysmal supraventricular tachycardia in most parts of the world and is the most common cause in China, being responsible for more than 70 percent of cases. 1 In Western countries, the prevalence of the Wolff–Parkinson–White syndrome is 1.5 to 3.1 per 1000 persons. 2 – 4 Tachycardias associated with the syndrome are usually paroxysmal and may produce symptoms of presyncope, syncope, and shortness of breath and cause sudden death. Conduction through an accessory pathway and the association of the Wolff–Parkinson–White syndrome with supraventricular tachycardia have led to the creation of an in vivo . . .