Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation.
Am J Med Genet A
; 188(1): 269-271, 2022 01.
Article
em En
| MEDLINE
| ID: mdl-34472207
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fístula Traqueoesofágica
/
Atresia Esofágica
/
Artropatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Ano de publicação:
2022
Tipo de documento:
Article