Neonatal Lung Disease Associated with TBX4 Mutations

Abstract

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.