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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257

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Title:
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Author: Jin, Sheng Chih ; Homsy, Jason ; Zaidi, Samir ; Lu, Qiongshi ; Morton, Sarah ; DePalma, Steven R ; Zeng, Xue ; Qi, Hongjian ; Chang, Weni ; Sierant, Michael C ; Hung, Wei-Chien ; Haider, Shozeb ; Zhang, Junhui ; Knight, James ; Bjornson, Robert D ; Castaldi, Christopher ; Tikhonoa, Irina R ; Bilguvar, Kaya ; Mane, Shrikant M ; Sanders, Stephan J ; Mital, Seema ; Russell, Mark W ; Gaynor, J William ; Deanfield, John ; Giardini, Alessandro ; Porter, Jr, George A ; Srivastava, Deepak ; Lo, Cecelia W ; Shen, Yufeng ; Watkins, W Scott ; Yandell, Mark ; Yost, H Joseph ; Tristani-Firouzi, Martin ; Newburger, Jane W ; Roberts, Amy E ; Kim, Richard ; Zhao, Hongyu ; Kaltman, Jonathan R ; Goldmuntz, Elizabeth ; Chung, Wendy K ; Seidman, Jonathan G ; Gelb, Bruce D ; Seidman, Christine E ; Lifton, Richard P ; Brueckner, Martina
Subjects: Accounting ; Adult ; Autism ; Autistic Disorder - genetics ; Autistic Disorder - pathology ; Bioinformatics ; Birth defects ; Cardiac Myosins - genetics ; Cardiovascular disease ; Care and treatment ; Case-Control Studies ; Child ; Congenital anomalies ; Congenital defects ; Congenital diseases ; Congenital heart defects ; Congenital heart disease ; Consortia ; Coronary artery disease ; Datasets ; Development and progression ; Exome ; Female ; Gene Expression ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic variation ; Genome-Wide Association Study ; Genomes ; Genomics ; Genotypes ; Growth Differentiation Factor 1 - genetics ; Health aspects ; Heart ; Heart Defects, Congenital - genetics ; Heart Defects, Congenital - pathology ; Heart diseases ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Mortality ; Mutation ; Myosin Heavy Chains - genetics ; Offspring ; Pediatrics ; Pedigree ; Principal components analysis ; Risk ; Statistical methods ; Tetralogy of Fallot ; Vascular Endothelial Growth Factor Receptor-3 - genetics
Is Part Of: Nature genetics, 2017-11, Vol.49 (11), p.1593-1601
Description: Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) accounted for 8% of cases, including ∼3% of isolated CHD patients and ∼28% with both neurodevelopmental and extra-cardiac congenital anomalies. Seven genes surpassed thresholds for genome-wide significance, and 12 genes not previously implicated in CHD had >70% probability of being disease related. DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found.
Publisher: United States: Nature Publishing Group
Language: English
Identifier: ISSN: 1061-4036
EISSN: 1546-1718
DOI: 10.1038/ng.3970
PMID: 28991257
Source: Geneva Foundation Free Medical Journals at publisher websites
MEDLINE
ProQuest Central

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257

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