Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
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.
['Chooey|Jonathan|J|https://orcid.org/0000-0003-4241-2735', 'Trexler|Connor|C|https://orcid.org/0000-0002-4638-2417', 'Becker|Amy M|AM|https://orcid.org/0000-0002-1758-9224', 'Hogue|Jacob S|JS|https://orcid.org/0000-0002-0435-5197']
esophageal atresia proximal symphalangism NOG BMP pathway tracheoesophageal atresia