This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, a rare mutation in the TBX1 gene has been identified with 22q11 deletion syndrome (22q11DS) (Paylor et al., 2006).
Molecular Function
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. 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. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
Model Type:
Genetic
Model Genotype:
Heterozygous
Mutation:
Homologous recombination mediated deletion of bluntended exons 1 and 2 of Tbx1 gene and replaced with hygromycin resistance cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129/C57BL/6J
Genetic Background: 129S6
ES Cell Line: WW6
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Decreased frequency of vocalizations in complex, two-syllable, composite, frequency steps and shorter duration in harmoics, two-syllable, composite and frequency steps
Exp Paradigm: Maternal seperation induced vocalizations
