TOF TBX1

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy¹.

Prevalence

Found in one Turkish individual².

Age of Onset Details

Locus

hg19

chr22:19754285-19754330

hg38

chr22:19766762-19766807

t2t

chr22:20143615-20143660

Details

Found in one Turkish individual with Tetralogy of Fallot who had 25 repeats rather than 15².

Mechanism

LoF/GoF

Polyalanine expansion, leading to cytoplasmic aggregation^3,4.

Year

2010⁴

Location in Gene

Coding Exon 9

Gene Strand

Alleles

Ref. Motif

GCN

Pathogenic (ref.)

GCN

Pathogenic (gene)

CNG

gnomAD

Pathogenic genotype frequency data is not displayed for this locus because a substantial number of large alleles failed manual review by the gnomAD team.

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0008542

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

genereviews:NBK535148

omim:187500

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Ralf,Rauch, Michael,Hofbeck, Christiane,Zweier, Andreas,Koch, Stefan,Zink, Udo,Trautmann, Juliane,Hoyer, Renate,Kaulitz, Helmut,Singer, Anita,Rauch

Journal of medical genetics · 2009-11-30

pmid:19948535

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.

Raquel,Castellanos, Qing,Xie, Deyou,Zheng, Ales,Cvekl, Bernice E,Morrow

PloS one · 2014-05-05

pmid:24797903

Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion.

Huansheng,Xu, Fabiana,Cerrato, Antonio,Baldini

Development (Cambridge, England) · 2005-09-01

pmid:16141220

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

L,McQuade, J,Christodoulou, M,Budarf, R,Sachdev, M,Wilson, B,Emanuel, A,Colley

American journal of medical genetics · 1999-09-03

pmid:10440825