Nature Communications (Oct 2019)
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
- W. Scott Watkins,
- E. Javier Hernandez,
- Sergiusz Wesolowski,
- Brent W. Bisgrove,
- Ryan T. Sunderland,
- Edwin Lin,
- Gordon Lemmon,
- Bradley L. Demarest,
- Thomas A. Miller,
- Daniel Bernstein,
- Martina Brueckner,
- Wendy K. Chung,
- Bruce D. Gelb,
- Elizabeth Goldmuntz,
- Jane W. Newburger,
- Christine E. Seidman,
- Yufeng Shen,
- H. Joseph Yost,
- Mark Yandell,
- Martin Tristani-Firouzi
Affiliations
- W. Scott Watkins
- Department of Human Genetics, University of Utah
- E. Javier Hernandez
- Department of Human Genetics, University of Utah
- Sergiusz Wesolowski
- Department of Human Genetics, University of Utah
- Brent W. Bisgrove
- Molecular Medicine Program, University of Utah
- Ryan T. Sunderland
- Molecular Medicine Program, University of Utah
- Edwin Lin
- Department of Human Genetics, University of Utah
- Gordon Lemmon
- Department of Human Genetics, University of Utah
- Bradley L. Demarest
- Molecular Medicine Program, University of Utah
- Thomas A. Miller
- Division of Pediatric Cardiology, University of Utah School of Medicine
- Daniel Bernstein
- Department of Pediatrics, Stanford University School of Medicine
- Martina Brueckner
- Department of Pediatrics, Yale University School of Medicine
- Wendy K. Chung
- Departments of Pediatrics and Medicine, Columbia University, NY
- Bruce D. Gelb
- Mindich Child Health and Development Institute, Departments of Pediatrics and Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Elizabeth Goldmuntz
- Division of Cardiology, Department of Pediatrics, Children’s Hospital of Philadelphia
- Jane W. Newburger
- Department of Cardiology, Boston Children’s Hospital
- Christine E. Seidman
- Departments of Genetics and Medicine, Harvard Medical School
- Yufeng Shen
- Departments of Systems Biology and Biomedical Informatics, Columbia University
- H. Joseph Yost
- Molecular Medicine Program, University of Utah
- Mark Yandell
- Department of Human Genetics, University of Utah
- Martin Tristani-Firouzi
- Division of Pediatric Cardiology, University of Utah School of Medicine
- DOI
- https://doi.org/10.1038/s41467-019-12582-y
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 12
Abstract
Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo genotypes to CHD in 2391 trios and find them to be associated with different gene functions.
