Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
Open accessAbstract
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10(-3), two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10(-2), two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.
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Common variation may determine which specific traits are expressed when a highly penetrant mutation occurs, and findings in 22q11.2 and 16p11.2 deletion syndromes provide some support for this.
“One intriguing hypothesis is that common variation may be a factor determining the expression of specific traits when a highly penetrant mutation occurs (Fig. 1), and recent findings in both 22q11.2 and 16p11.2deletion syndromes provide some support of this.”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [49]
A study of 22q11.2 deletion carriers identified a common CNV that could act as a modifier of the cardiac phenotype.
“A study focussing on the variable expressivity of CHD in carriers of 22q11.2deletion has identified a common CNV that could act as a modifier on the cardiac phenotype in individuals with the syndrome (49).”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [49]
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McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., Zackai, E. H., Emanuel, B. S., Vermeesch, J. R., Morrow, B. E., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.71 · Cited by 2,236 · see citing works
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- Authors
- Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., Devriendt, K., Breckpot, J., Digilio, M. C., Marino, B., Dallapiccola, B., Philip, N., Simon, T. J., Roberts, A. E., Piotrowicz, M., Bearden, C. E., Eliez, S., Gothelf, D., Coleman, K., Kates, W. R., Devoto, M., Zackai, E., Heine-Suñer, D., Shaikh, T. H., Bassett, A. S., Goldmuntz, E., Morrow, B. E., & Emanuel, B. S.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Albert Einstein College of Medicine (US)
- Massachusetts Eye and Ear Infirmary (US)
- Centre for Addiction and Mental Health (CA)
- University Medical Center Utrecht (NL)
- KU Leuven (BE)
- Bambino Gesù Children's Hospital (IT)
- Sapienza University of Rome (IT)
- Assistance Publique Hôpitaux de Marseille (FR)
- Boston Children's Hospital (US)
- Polish Mother’s Memorial Hospital Research Institute (PL)
- University of California, Los Angeles (US)
- Tel Aviv University (IL)
- Emory University (US)
- SUNY Upstate Medical University (US)
- University of Colorado Denver (US)
- Corresponding author
- Emanuel, Beverly S.
- ORCID
- Mlynarski, Elisabeth E.
- Guo, Tingwei
- Racedo, Silvia E.
- Gai, Xiaowu
- Chow, Eva W.C.
- Vorstman, Jacob
- Swillen, Ann
- Breckpot, Jeroen
- Marino, Bruno
- Dallapiccola, Bruno
- Roberts, Amy E.
- Piotrowicz, Małgorzata
- Bearden, Carrie E.
- Kates, Wendy R.
- Devoto, Marcella
- Zackai, Elaine
- Shaikh, Tamim H.
- Bassett, Anne S.
- Goldmuntz, Elizabeth
- Morrow, Bernice E.
- Emanuel, Beverly S.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2015-05
- Volume
- 96
- Issue
- 5
- Pages
- 753-764
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC4570279
- OpenAlex
- W2157171602
- Cited by
- 74
- References
- 54
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 8 · 2022: 6 · 2021: 3 · 2020: 5 · 2019: 4 · 2018: 6 · 2017: 15 · 2016: 10 · 2015: 6
- FWCI
- 8.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Lirias (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Funders
- National Institutes of Health (UL1TR001073, UL1TR000003)
- National Heart, Lung, and Blood Institute (HL84410, R01HL084410)
- National Institute of Mental Health (U01MH101723, MH87636, U01MH087636)
- National Center for Research Resources (UL1RR025758)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD042974, P30HD026979, HD070454, P01HD070454, HD026979)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- 22q11.2 deletion syndrome, congenital heart disease, GLUT3, glucose transporter genes, copy number variation, gene duplication, aortic arch anomalies, conotruncal defects, genetic modifiers, phenotypic variability
- MeSH terms
- Adult, Aorta, Thoracic, DiGeorge Syndrome, Female, Genotype, Heart Defects, Congenital, Humans, Male, Polymorphism, Single Nucleotide, Glucose Transporter Type 3, DNA Copy Number Variations
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