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FLASH GENE

Symbol

TBX1

contributors: mct/npt - updated : 26-09-2024

HGNC name	T-box 1
HGNC id	11592

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL22Q11 , CTHMT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

to modification of basicranial morphology

Variant & Polymorphism SNP	rs41298798 is the most likely causal SNP contributing to basicranial morphology

Candidate gene	for congenital heart defects such as TOF,PTA and IAA in del 22q11
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular myopathy   may be a therapeutic target for muscular dystrophy

ANIMAL & CELL MODELS

	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
	in Tbx1-deficient mice, the spheno-occipital synchondrosis was completely mineralized at birth
	Tbx1-knockout mice exhibited skull base and vertebral abnormalities similar to those seen in DiGeorge syndrome