Gain of function mutations in GATA6 lead to atrial fibrillation

Background The genetic basis of atrial fibrillation (AF) and congenital heart disease remains incompletely understood. Objective We sought to determine the causative mutation in a family with AF, atrial septal and ventricular septal defects. Methods We evaluated a pedigree with 16 family members, on...

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Veröffentlicht in:	Heart rhythm 2017-02, Vol.14 (2), p.284-291
Hauptverfasser:	Tucker, Nathan R., PhD, Mahida, Saagar, MB, ChB, Ye, Jiangchuan, MD, PhD, Abraham, Elizabeth J., BS, Mina, Julie A., BS, Parsons, Victoria A., BS, McLellan, Michael A., BS, Shea, Marisa A., BS, RN, Hanley, Alan, MD, Benjamin, Emelia J., MD, MSc, Milan, David J., MD, Lin, Honghuang, PhD, Ellinor, Patrick T., MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Atrial fibrillation Atrial Fibrillation - diagnosis Atrial Fibrillation - epidemiology Atrial Fibrillation - genetics Cardiovascular Exome Sequencing - methods Female GATA6 Transcription Factor - genetics Genetics Heart Septal Defects, Atrial - diagnosis Heart Septal Defects, Atrial - epidemiology Heart Septal Defects, Atrial - genetics Heart Septal Defects, Ventricular - diagnosis Heart Septal Defects, Ventricular - epidemiology Heart Septal Defects, Ventricular - genetics Humans Male Massachusetts - epidemiology Middle Aged Mutation Pedigree Transcription factor
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