HHS Public Access Author manuscript Author Manuscript
Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 August 01. Published in final edited form as: Circ Cardiovasc Genet. 2016 August ; 9(4): 320–329. doi:10.1161/CIRCGENETICS.115.001324.
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease Stephanie LaHaye, BS1,2,3,*, Don Corsmeier, DVM4,5,*, Madhumita Basu, PhD1,2, Jessica L. Bowman, MD2,5, Sara Fitzgerald-Butt, MS1,2,5, Gloria Zender, BS1, Kevin Bosse, PhD1, Kim L. McBride, MD, MS1,2,5, Peter White, PhD4,5, and Vidu Garg, MD1,2,3,5 1Center
Author Manuscript
2The
for Cardiovascular Research, The Research Institute at Nationwide Children’s Hospital
Heart Center, Nationwide Children’s Hospital
3Department
of Molecular Genetics, The Ohio State University
4Biomedical
Genomics Core & the Center for Microbial Pathogenesis, The Research Institute at Nationwide Children’s Hospital 5Department
of Pediatrics, The Ohio State University, Columbus, OH
Abstract
Author Manuscript
Background—Congenital heart disease (CHD) is the most common type of birth defect with family and population based studies supporting a strong genetic etiology for CHD. The goal of this study was to determine if a whole exome sequencing (WES) approach could identify pathogenic segregating variants in multiplex CHD families.
Author Manuscript
Methods and Results—WES was performed on 9 kindreds with familial CHD, 4 with atrial septal defects (ASD), 2 with patent ductus arteriosus (PDA), 2 with tetralogy of Fallot (TOF) and 1 with pulmonary valve dysplasia. Rare variants (
Circ Cardiovasc Genet. Author manuscript; available in PMC 2017 August 01. Published in final edited form as: Circ Cardiovasc Genet. 2016 August ; 9(4): 320–329. doi:10.1161/CIRCGENETICS.115.001324.
Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease Stephanie LaHaye, BS1,2,3,*, Don Corsmeier, DVM4,5,*, Madhumita Basu, PhD1,2, Jessica L. Bowman, MD2,5, Sara Fitzgerald-Butt, MS1,2,5, Gloria Zender, BS1, Kevin Bosse, PhD1, Kim L. McBride, MD, MS1,2,5, Peter White, PhD4,5, and Vidu Garg, MD1,2,3,5 1Center
Author Manuscript
2The
for Cardiovascular Research, The Research Institute at Nationwide Children’s Hospital
Heart Center, Nationwide Children’s Hospital
3Department
of Molecular Genetics, The Ohio State University
4Biomedical
Genomics Core & the Center for Microbial Pathogenesis, The Research Institute at Nationwide Children’s Hospital 5Department
of Pediatrics, The Ohio State University, Columbus, OH
Abstract
Author Manuscript
Background—Congenital heart disease (CHD) is the most common type of birth defect with family and population based studies supporting a strong genetic etiology for CHD. The goal of this study was to determine if a whole exome sequencing (WES) approach could identify pathogenic segregating variants in multiplex CHD families.
Author Manuscript
Methods and Results—WES was performed on 9 kindreds with familial CHD, 4 with atrial septal defects (ASD), 2 with patent ductus arteriosus (PDA), 2 with tetralogy of Fallot (TOF) and 1 with pulmonary valve dysplasia. Rare variants (
