Title: Genotype and Cardiovascular Phenotype Correlations with TBX1 in 1,022 Velo-Cardio-Facial/DiGeorge/22q11.2 Deletion Syndrome Patients
Authors: Guo, Tingwei ×
McGinn, Donna McDonald
Blonska, Anna
Shanske, Alan
Bassett, Anne
Chow, Eva
Bowser, Mark
Sheridan, Molly
Beemer, Frits
Devriendt, Koenraad
Swillen, Ann
Breckpot, Jeroen
Digilio, M Cristina
Marino, Bruno
Dallapiccola, Bruno
Carpenter, Courtney
Zheng, Xin
Johnson, Jacob
Chung, Jonathan
Higgins, Anne Marie
Philip, Nicole
Simon, Tony J
Coleman, Karlene
Heine-Suner, Damian
Rosell, Jordi
Kates, Wendy
Devoto, Marcella
Goldmuntz, Elizabeth
Zackai, Elaine
Wang, Tao
Shprintzen, Robert
Emanuel, Beverly
Morrow, Bernice
the International Chromosome 22q11.2 Consortium #
Issue Date: Jul-2011
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:32 issue:11 pages:1278-1289
Article number: 10.1002/humu.21568
Abstract: Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2, could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP number in those with or without a congenital heart defect. One exception was that there was increased number of very rare SNPs between those with normal heart anatomy compared to those with right-sided aortic arch or persistent truncus arteriosus, suggesting potentially protective roles in the SNPs for these phenotype enrichment groups. Nine common SNPs (MAF >0.05) were chosen and used to genotype the entire cohort of 1,022 22q11DS subjects. We did not find a correlation between common SNPs or haplotypes and cardiovascular phenotype. This work demonstrates that common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome. © 2011 Wiley-Liss, Inc.
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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