De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
Christine Seidman and colleagues report that 1% of individuals with sporadic non-syndromic tetralogy of Fallot show copy number gains or losses at chromosome 1q21.1. They also report copy number changes at other loci that likely contribute to the etiology of this congenital heart malformation. Tetra...
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| Published in | Nature genetics Vol. 41; no. 8; pp. 931 - 935 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.08.2009
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Christine Seidman and colleagues report that 1% of individuals with sporadic non-syndromic tetralogy of Fallot show copy number gains or losses at chromosome 1q21.1. They also report copy number changes at other loci that likely contribute to the etiology of this congenital heart malformation.
Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11
de novo
copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (
n
= 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512,
P
= 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (
NOTCH1
,
JAG1
) disease-associated genes. Our findings predict that at least 10% (4.5–15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from
de novo
CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. |
|---|---|
| AbstractList | Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. [PUBLICATION ABSTRACT] Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. A genome-wide survey of 114 TOF patients and their unaffected parents identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. A second, independent TOF cohort (n = 398) was then examined for additional CNVs at these loci. In 1% (5/512, p = 0.0002, OR = 22.3) of non-syndromic sporadic TOF cases we identified CNVs at chromosome 1q21.1. Recurrent CNVs were also identified at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single TOF case occurred at six loci, two that encode known ( NOTCH1 , JAG1 ) disease genes. Our data predicts that at least 10% (4.5–15.5, 95% CI) of sporadic, non-syndromic TOF reflects de novo CNVs and implicates mutations within these loci as etiologic in other cases of TOF. Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF.Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. Christine Seidman and colleagues report that 1% of individuals with sporadic non-syndromic tetralogy of Fallot show copy number gains or losses at chromosome 1q21.1. They also report copy number changes at other loci that likely contribute to the etiology of this congenital heart malformation. Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort ( n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known ( NOTCH1 , JAG1 ) disease-associated genes. Our findings predict that at least 10% (4.5–15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (< 0.1 %) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1 % (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22g11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. |
| Audience | Academic |
| Author | Greenway, Steven C Seidman, Christine E Lin, Jennifer C Conta, Jessie H de Lourdes Quintanilla-Dieck, Maria Korn, Joshua M McCarroll, Steven A Breitbart, Roger E Mesquita, Sonia M Gabriel, Stacey Artunduaga, Maria Alexandra Altshuler, David M DePalma, Steven R Plenge, Robert M Hafler, David A Ergul, Emel Seidman, Jonathan G Shadick, Nancy A Israel, Samuel J Eavey, Roland D Gorham, Joshua M Weinblatt, Michael E Pereira, Alexandre C De Jager, Philip L |
| AuthorAffiliation | 3 Department of Cardiology, Children’s Hospital, Boston, Massachusetts 02115, USA 4 Broad Institute, Cambridge, Massachusetts 02114, USA 5 Department of Otology and Laryngology, Massachusetts Eye & Ear Infirmary, Boston, Massachusetts 02115, USA 7 Department of Neurology, Brigham and Women’s Hospital, Boston, Massachusetts 02115, USA 1 Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA 2 Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of São Paulo Medical School, São Paulo 05403, Brazil 6 Division of Rheumatology, Immunology and Allergy, Brigham and Women’s Hospital, Boston, Massachusetts 02115, USA 8 Cardiovascular Division, Brigham and Women’s Hospital, Boston, Massachusetts 02115, USA |
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| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21777719$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/19597493$$D View this record in MEDLINE/PubMed |
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| Keywords | Variant Gene Sporadic Copy number Heart disease Fallot tetralogy Cardiovascular disease Identification Locus Congenital disease De novo |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 SCG, ACP, REB, JGS, and CES designed the experiments. SCG, JCL, SJI, and JMG performed the experiments. SCG, SRD, JMK, SAM, SG, DAA, JGS, and CES were involved in genotyping and data analysis. EE, ACP, SMM, MQD, MAA, RDE, RMP, NAS, MEW, PLD, DAH, and REB recruited patients and collected DNA. SCG, JGS, and CES wrote the paper with input from all authors. contributed equally to this study Author Contributions |
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| Snippet | Christine Seidman and colleagues report that 1% of individuals with sporadic non-syndromic tetralogy of Fallot show copy number gains or losses at chromosome... Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of... |
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| SubjectTerms | Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Cardiology. Vascular system Cardiovascular disease Child, Preschool Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 3 - genetics Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava Data analysis Fundamental and applied biological sciences. Psychology Gene Dosage Gene Expression Regulation Gene Function Genes Genetic aspects Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Heart Heart Ventricles - metabolism Human Genetics Humans letter Medical sciences Mutation Phenotype Risk factors Studies Tetralogy of Fallot Tetralogy of Fallot - genetics Tetralogy of Fallot - pathology |
| Title | De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot |
| URI | https://link.springer.com/article/10.1038/ng.415 https://www.ncbi.nlm.nih.gov/pubmed/19597493 https://www.proquest.com/docview/222675584 https://www.proquest.com/docview/20935342 https://www.proquest.com/docview/67539757 https://pubmed.ncbi.nlm.nih.gov/PMC2747103 |
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