ORPHA: 1478; DO: 0110114;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 18q11.2 | Atrial septal defect 9 | 614475 | Autosomal dominant | 3 | GATA6 | 601656 |
A number sign (#) is used with this entry because of evidence that atrial septal defect-9 (ASD9) is caused by heterozygous mutation in the GATA6 gene (601656) on chromosome 18q11.
For discussion of genetic heterogeneity of atrial septal defect (ASD), see ASD1 (108800).
Lin et al. (2010) analyzed the GATA6 gene in 270 unrelated Chinese patients with congenital heart defects and identified heterozygosity for a missense mutation in the GATA6 gene (S184N; 601656.0005) in 2 Chinese children with atrial septal defect. One of the ASD patients was a 3-year-old girl with an ostium secundum ASD and mild pulmonary arterial hypertension, whereas the other was a 4-year-old boy with an ostium secundum ASD and mild tricuspid valve disease and pulmonary valve replacement. The S184N mutation was detected in the unaffected father of the girl as well as in the clinically unaffected mother of the boy; the latter parent was found to have bicuspid aortic valve on echocardiography. The mutation, which was also identified in a patient with tetralogy of Fallot (TOF; 187500), was not found in 500 ethnically matched controls.
Lin, X., Huo, Z., Liu, X., Zhang, Y., Li, L., Zhao, H, Yan, B., Liu, Y., Yang, Y., Chen, Y.-H. A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. J. Hum. Genet. 55: 662-667, 2010. [PubMed: 20631719] [Full Text: https://doi.org/10.1038/jhg.2010.84]