Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Jan;188(1):269-271.
doi: 10.1002/ajmg.a.62486. Epub 2021 Sep 2.

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

Jonathan Chooey  1 , Connor Trexler  1 , Amy M Becker  1 , Jacob S Hogue  1
Affiliations
Case Reports

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

Jonathan Chooey et al. Am J Med Genet A. 2022 Jan.

Abstract

Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations of the human foregut. The etiology remains incompletely understood with genetic causes identified in a small minority of affected patients. We present the case of a newborn with type C EA/TEF along with proximal symphalangism found to have a de novo NOG nonsense mutation. Patients with chromosome 17q deletions including the NOG gene have previously been reported to have EA/TEF but mutations in the gene have not been identified in patients with this malformation. This case provides evidence that haploinsufficiency for NOG may be the cause for EA/TEF in the 17q deletion syndrome and suggests that the clinical spectrum of NOG-related symphalangism spectrum disorders may include EA/TEF.

Keywords: BMP pathway; NOG; esophageal atresia; proximal symphalangism; tracheoesophageal atresia.

PubMed Disclaimer

References

REFERENCES

    1. Alcantara, D., Elmslie, F., Tetreault, M., Bareke, E., Hartley, T., Consortium, C. R., Majewski, J., Boycott, K., Innes, A. M., Dyment, D. A., & O'Driscoll, M. (2017). SHORT syndrome due to a novel de novo mutation in PRKCE (protein kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics, 26(19), 3713-3721. https://doi.org/10.1093/hmg/ddx256
    1. Brosens, E., Ploeg, M., van Bever, Y., Koopmans, A. E., IJsselstijn, H., Rottier, R. J., Wijnen, R., Tibboel, D., & de Klein, A. (2014). Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies. European Journal of Medical Genetics, 57(8), 440-452. https://doi.org/10.1016/j.ejmg.2014.05.009
    1. Brunet, L. J., McMahon, J. A., McMahon, A. P., & Harland, R. M. (1998). Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science, 280(5368), 1455-1457. https://doi.org/10.1126/science.280.5368.1455
    1. Dallapiccola, B., Mingarelli, R., Digilio, C., Obregon, M. G., & Giannotti, A. (1993). Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome. Clinical Genetics, 43(1), 54-55. https://doi.org/10.1111/j.1399-0004.1993.tb04452.x
    1. Li, Y., Litingtung, Y., Ten Dijke, P., & Chiang, C. (2007). Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia. Developmental Dynamics, 236(3), 746-754. https://doi.org/10.1002/dvdy.21075

Publication types

Substances

LinkOut - more resources