Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation. Issue 1 (2nd September 2021)

• Record Type: Journal Article
• Authors: Chooey, Jonathan; Trexler, Connor; Becker, Amy M.; Hogue, Jacob S.
• Is Part Of: American journal of medical genetics. Volume 188:Issue 1(2022)
• Page Start: 269
• Page End: 271
• Publication Date: 2021-09-02
• Subjects: BMP pathway -- esophageal atresia -- NOG -- proximal symphalangism -- tracheoesophageal atresia; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62486
• Languages: English
• ISSNs: 1552-4825

Abstract

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.