Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

✍ Scribed by Tingwei Guo; Donna McDonald-McGinn; Anna Blonska; Alan Shanske; Anne S. Bassett; Eva Chow; Mark Bowser; Molly Sheridan; Frits Beemer; Koen Devriendt; Ann Swillen; Jeroen Breckpot; Maria C. Digilio; Bruno Marino; Bruno Dallapiccola; Courtney Carpenter; Xin Zheng; Jacob Johnson; Jonathan Chung; Anne Marie Higgins; Nicole Philip; Tony J. Simon; Karlene Coleman; Damian Heine-Suner; Jordi Rosell; Wendy Kates; Marcella Devoto; Elizabeth Goldmuntz; Elaine Zackai; Tao Wang; Robert Shprintzen; Beverly Emanuel; Bernice Morrow; The International Chromosome 22q11.2 Consortium

• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 611 KB
• Volume: 32
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.21568

✦ Synopsis

Haploinsufficiency of TBX1, encoding a Tbox 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 (single nucleotide polymorphism) 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