Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
- Mlynarski, Elisabeth E
- Sheridan, Molly B
- Xie, Michael
- Guo, Tingwei
- Racedo, Silvia E
- McDonald-McGinn, Donna M
- Gai, Xiaowu
- Chow, Eva WC
- Vorstman, Jacob
- Swillen, Ann
- Devriendt, Koenraad
- Breckpot, Jeroen
- Digilio, Maria Cristina
- Marino, Bruno
- Dallapiccola, Bruno
- Philip, Nicole
- Simon, Tony J
- Roberts, Amy E
- Piotrowicz, Małgorzata
- Bearden, Carrie E
- Eliez, Stephan
- Gothelf, Doron
- Coleman, Karlene
- Kates, Wendy R
- Devoto, Marcella
- Zackai, Elaine
- Heine-Suñer, Damian
- Shaikh, Tamim H
- Bassett, Anne S
- Goldmuntz, Elizabeth
- Morrow, Bernice E
- Emanuel, Beverly S
- International Chromosome 22q11.2 Consortium
DOIAbstract
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 su...