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J Pediatr. 2018 Nov 7. pii: S0022-3476(18)31430-6. doi: 10.1016/j.jpeds.2018.10.018. [Epub ahead of print]

Neonatal Lung Disease Associated with TBX4 Mutations.

Author information

1
Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
2
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
3
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH.
4
Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH.
5
Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
6
Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
7
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH; Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
8
Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH; Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address: kathryn.wikenheiser-brokamp@cchmc.org.

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

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