Gene: TBX1

Alternate names for this Gene: CAFS|CATCH22|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCF|VCFS

Gene Summary: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: T-box transcription factor 1

Type of Gene: protein-coding

rs1978060 in TBX1 gene and Adolescent idiopathic scoliosis PMID 31417091 2019 Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.

rs41298838 in TBX1 gene and DiGeorge Syndrome PMID 11195019 2001 Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2.

PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

rs1555896474 in TBX1 gene and Dysmorphic features PMID 27617111 2015 22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.

PMID 11748311 2001 Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.

PMID 1349199 1992 A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

PMID 23996541 2013 Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome.

PMID 26056486 2015 22q11 deletion syndrome: current perspective.

PMID 17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

PMID 26884814 2016 Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

PMID 24998776 2014 Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.

PMID 25569435 2015 Practical guidelines for managing adults with 22q11.2 deletion syndrome.

PMID 18636631 2008 Velo-cardio-facial syndrome: 30 Years of study.

rs2238776 in TBX1 gene and Interleukin 10 Measurement PMID 22205395 2012 Genome-wide associated loci influencing interleukin (IL)-10, IL-1Ra, and IL-6 levels in African Americans.

rs2238776 in TBX1 gene and Prostate carcinoma PMID 25217961 2014 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.

rs1978060 in TBX1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 31417091 2019 Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.

rs41297816 in TBX1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs28939675 in TBX1 gene and Shprintzen syndrome PMID 14585638 2003 Role of TBX1 in human del22q11.2 syndrome.

PMID 17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

PMID 17273972 2007 We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex.

PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

PMID 25569435 2015 Practical guidelines for managing adults with 22q11.2 deletion syndrome.