ArticleAmerican journal of medical genetics. Part A2012
Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.Human molecular genetics · 2016Pooled it
- Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.Circulation research · 2014Trial
- Human Genetics of Atrioventricular Septal Defect.Advances in experimental medicine and biology · 2024Review
- SNP and DNA methylation analyses of a monozygotic twins discordant for complete endocardial cushion defect: a case report.American journal of translational research · 2022Article
- Genetics of atrioventricular canal defects.Italian journal of pediatrics · 2020Review
- Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.Molecular genetics & genomic medicine · 2019Article
- [Research progress on genetic and epigenetic mechanisms in congenital heart disease].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2018Review
- Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.Journal of cardiovascular development and disease · 2018Review
- Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.G3 (Bethesda, Md.) · 2018Article
- Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray.Pediatric cardiology · 2018Article
- Next-generation sequencing identified genetic variations in families with fetal non-syndromic atrioventricular septal defects.International journal of clinical and experimental pathology · 2018Article
- Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.Molecular cytogenetics · 2018Article
- An interspecies heart-to-heart: UsingCurrent pathobiology reports · 2017Article
- The importance of copy number variation in congenital heart disease.NPJ genomic medicine · 2016Article
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations.Molecular syndromology · 2016Review
- De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.PLoS genetics · 2016Article
- Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- What Is New in Genetics of Congenital Heart Defects?Frontiers in pediatrics · 2016Review
- CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus.Developmental biology · 2015Article
- Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Atrioventricular septal defects (AVSDs) are a frequent but not universal component of Down syndrome (DS), while AVSDs in otherwise normal individuals have no well-defined genetic basis. The contribution of copy number variation (CNV) to specific congenital heart disease (CHD) phenotypes including AVSD is unknown. We hypothesized that de novo CNVs on chromosome 21 might cause isolated sporadic AVSDs, and separately that CNVs throughout the genome might constitute an additional genetic risk factor for AVSD in patients with DS. We utilized a custom oligonucleotide arrays targeted to CNV hotspots that are flanked by large duplicated segments of high sequence identity. We assayed 29 euploid and 50 DS individuals with AVSD, and compared to general population controls. In patients with isolated-sporadic AVSD we identified two large unique deletions outside of chromosome 21 not seen in the expanded set of 8,635 controls, each overlapping with larger deletions associated with similar CHD reported in the DECIPHER database. There was a small duplication in one patient with DS and AVSD. We conclude that isolated sporadic AVSDs may be occasionally associated with large de novo genomic structural variation outside of chromosome 21. The absence of CNVs on chromosome 21 in patients with isolated sporadic AVSD suggests that sub-chromosomal duplications or deletions of greater than 150 kbp on chromosome 21 do not cause sporadic AVSDs. Large CNVs do not appear to be an additive risk factor for AVSD in the DS population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.