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Symbol TBX1 contributors: mct/npt - updated : 29-03-2017
HGNC name T-box 1
HGNC id 11592
corresponding disease(s) DEL22Q11 , CTHMT
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
haploinsufficiency associated to psychiatric disorder in DEL22Q11
constitutional       loss of function
in thyroid dysgenesis
constitutional       loss of function
underlies specific prodromal and symptomatic elements of schizophrenia, as well as autism spectrum disorder
constitutional   deletion    
from the pharyngeal endoderm is sufficient to cause caudal pharyngeal arch segmentation defects by FGF-independent effectors
Variant & Polymorphism
Candidate gene for congenital heart defects such as TOF,PTA and IAA in del 22q11
Therapy target
  • null mutant mice have conotruncal defect and a phenotype reminiscent of the Di George syndrome. required for normal heart development of the pharyngeal arch arteries in a gene dosage-dependent manner, in mice
  • diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome (Meechan 2009)
  • impaired adhesion separation of the oral epithelium together with compromised palatal mesenchymal growth is an underlying cause for various forms of cleft palate phenotypes in Tbx1(-/-) mice
  • DiGeorge syndrome-like anomalies are present in mice with homozygous mutation of Moz and in heterozygous Moz mutants when combined with Tbx1 haploinsufficiency or oversupply of retinoic acid
  • constitutive Tbx1-deficient mice show hearing impairments and velopharyngeal dysfunction, and selectively showed lower levels of vocal sounds in complex vocal patterns only