@article {416871,
	title = {Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.},
	journal = {Am J Hum Genet},
	volume = {96},
	number = {5},
	year = {2015},
	month = {2015 May 7},
	pages = {753-64},
	abstract = {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\&nbsp;=\&nbsp;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\&nbsp;{\texttimes} 10(-3), two-tailed Fisher{\textquoteright}s exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30\&nbsp;{\texttimes} 10(-2), two-tailed Fisher{\textquoteright}s exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68\&nbsp;{\texttimes} 10(-4), two-tailed Fisher{\textquoteright}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.},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2015.03.007},
	author = {Mlynarski, Elisabeth E and Sheridan, Molly B and Xie, Michael and Guo, Tingwei and Racedo, Silvia E and McDonald-McGinn, Donna M and Gai, Xiaowu and Chow, Eva W C and Vorstman, Jacob and Swillen, Ann and Devriendt, Koen and Breckpot, Jeroen and Digilio, Maria Cristina and Marino, Bruno and Dallapiccola, Bruno and Philip, Nicole and Simon, Tony J and Roberts, Amy E and Piotrowicz, Ma{\l}gorzata and Bearden, Carrie E and Eliez, Stephan and Gothelf, Doron and Coleman, Karlene and Kates, Wendy R and Devoto, Marcella and Zackai, Elaine and Heine-Su{\~n}er, Damian and Shaikh, Tamim H and Bassett, Anne S and Goldmuntz, Elizabeth and Morrow, Bernice E and Emanuel, Beverly S and International Chromosome 22q11.2 Consortium}
}
