Article ; Online: Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.
2023 Volume 55, Issue 12, Page(s) 634–646
Abstract: Congenital heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. To catalog the putative candidate CHD risk genes, we collected 16,349 variants [single-nucleotide variants (SNVs) and Indels] impacting 8,308 genes in 3,166 CHD ... ...
| Abstract | Congenital heart disease (CHD) is one of the most prevalent neonatal congenital anomalies. To catalog the putative candidate CHD risk genes, we collected 16,349 variants [single-nucleotide variants (SNVs) and Indels] impacting 8,308 genes in 3,166 CHD cases for a comprehensive meta-analysis. Using American College of Medical Genetics (ACMG) guidelines, we excluded the 0.1% of benign/likely benign variants and the resulting dataset consisted of 83% predicted loss of function variants and 17% missense variants. Seventeen percent were de novo variants. A stepwise analysis identified 90 variant-enriched CHD genes, of which six ( |
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| MeSH term(s) | Infant, Newborn ; Humans ; Myocytes, Cardiac ; Endothelial Cells ; Heart Defects, Congenital/genetics ; Aortic Coarctation ; Mutation/genetics ; MAP Kinase Kinase Kinases/genetics | |||||
| Chemical Substances | MAP3K19 protein, human (EC 2.7.11.25) ; MAP Kinase Kinase Kinases (EC 2.7.11.25) | |||||
| Language | English | |||||
| Publishing date | 2023-10-09 | |||||
| Publishing country | United States | |||||
| Document type | Meta-Analysis ; Journal Article | |||||
| ZDB-ID | 2038823-8 | |||||
| ISSN | 1531-2267 ; 1094-8341 | |||||
| ISSN (online) | 1531-2267 | |||||
| ISSN | 1094-8341 | |||||
| DOI | 10.1152/physiolgenomics.00070.2023 | |||||
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| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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