Neonatal Lung Disease Associated with TBX4 Mutations

J Pediatr. 2019 Mar;206:286-292.e1. doi: 10.1016/j.jpeds.2018.10.018. Epub 2018 Nov 7.


Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management.

Keywords: ABCA3; T-box transcription factor; TBX2; TBX4; congenital alveolar dysplasia; congenital anomaly; lung development; pulmonary hypoplasia.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Respiratory Insufficiency / genetics*
  • Respiratory Insufficiency / pathology*
  • T-Box Domain Proteins / genetics*


  • T-Box Domain Proteins
  • TBX4 protein, human