ArticleBirth defects research. Part A, Clinical and molecular teratology2009
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 34 citations in OpenAlex.
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
- DiGeorge syndrome: consider the diagnosis.BMJ case reports · 2022Article
- 22q11.2 Deletion Status Influences Resource Utilization in Infants Requiring Repair of Tetralogy of Fallot and Common Arterial Trunk.Pediatric cardiology · 2020Article
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.American journal of medical genetics. Part A · 2018Review
- Embryonic aortic arch hemodynamics are a functional biomarker for ethanol-induced congenital heart defects [Invited].Biomedical optics express · 2017Article
- Transgenerational cardiology: One way to a baby's heart is through the mother.Molecular and cellular endocrinology · 2016Review
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.Human genetics · 2016Article
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.American journal of human genetics · 2015Article
- Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.BMC medical genetics · 2014Article
- Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.Developmental dynamics : an official publication of the American Association of Anatomists · 2012Article
- Genetic counseling in the adult with congenital heart disease: what is the role?Current cardiology reports · 2011Article
- Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Physiological genomics · 2010Article
- Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects.Annals of pediatric cardiologyArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe phenotype associated with deletion of the 22q11.2 chromosomal region is highly variable, yet little is known about the source of this variability. Cardiovascular anomalies, including tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, perimembranous ventricular septal defects, and aortic arch anomalies, occur in approximately 75% of individuals with a 22q11.2 deletion.
methodsData from 343 subjects enrolled in a study of the 22q11.2 deletion syndrome were used to evaluate potential modifiers of the cardiac phenotype in this disorder. Subjects with and without cardiac malformations, and subjects with and without aortic arch anomalies were compared with respect to sex and race. In addition, in the subset of subjects from whom a DNA sample was available, genotypes for variants of four genes that are involved in the folate-homocysteine metabolic pathway and that have been implicated as risk factors for other birth defects were compared. Five variants in four genes were genotyped by heteroduplex or restriction digest assays. The chi-square or Fisher's exact test was used to evaluate the association between the cardiac phenotype and each potential modifier.
resultsThe cardiac phenotype observed in individuals with a 22q11.2 deletion was not significantly associated with either sex or race. The genetic variants that were evaluated also did not appear to be associated with the cardiovascular phenotype.
conclusionsVariation in the cardiac phenotype observed between individuals with a 22q11.2 deletion does not appear to be related to sex, race, or five sequence variants in four folate-related genes that are located outside of the 22q11.2 region.
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