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A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
- Source :
-
Genes [Genes (Basel)] 2021 Jul 08; Vol. 12 (7). Date of Electronic Publication: 2021 Jul 08. - Publication Year :
- 2021
-
Abstract
- Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly or through interference of gene expression. Recent studies in cancer and limb defects pinpointed the relevance of non-coding gene regulatory elements such as long non-coding RNAs (lncRNAs) and topologically associated domain (TAD)-related gene-enhancer interactions. The contribution of such non-coding elements is largely unexplored in congenital heart defects (CHD). We performed a retrospective analysis of CNVs reported in a cohort of 270 CHD patients. We reviewed the diagnostic yield of pathogenic CNVs, and performed a comprehensive reassessment of 138 CNVs of unknown significance (CNV-US), evaluating protein-coding genes, lncRNA genes, and potential interferences with TAD-related gene-enhancer interactions. Fifty-two of the 138 CNV-US may relate to CHD, revealing three candidate CHD regions, 19 candidate CHD genes, 80 lncRNA genes of interest, and six potentially CHD-related TAD interferences. Our study thus indicates a potential relevance of non-coding gene regulatory elements in CNV-related CHD pathogenesis. Shortcomings in our current knowledge on genomic variation call for continuous reporting of CNV-US in international databases, careful patient counseling, and additional functional studies to confirm these preliminary findings.
Details
- Language :
- English
- ISSN :
- 2073-4425
- Volume :
- 12
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Genes
- Publication Type :
- Academic Journal
- Accession number :
- 34356064
- Full Text :
- https://doi.org/10.3390/genes12071048