Neonatal Lung Disease Associated with TBX4 Mutations - 22/02/19
Doi : 10.1016/j.jpeds.2018.10.018
Kristen Suhrie, MD 1, 2, *, Nathan M. Pajor, MD 2, 3, *, Shawn K. Ahlfeld, MD 1, 2, D. Brian Dawson, PhD 2, 4, 5, Kevin R. Dufendach, MD 1, 2, 6, Joseph A. Kitzmiller, BS 1, Daniel Leino, MD, MPH 5, 7, Rachel C. Lombardo, MD 2, 4, Teresa A. Smolarek, PhD 2, 4, Pamela A. Rathbun, PhD 2, 4, Jeffrey A. Whitsett, MD 1, 2, Christopher Towe, MD 2, 3, Kathryn A. Wikenheiser-Brokamp, MD, PhD 1, 5, 7, * 
1 Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
2 Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH
3 Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
4 Divison of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
5 Department of Pathology & Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, OH
6 Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH
7 Division of Pathology & Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
*Reprint requests: Kathryn A. Wikenheiser-Brokamp, MD, PhD, Pathology & Laboratory Medicine and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229-3039.Pathology & Laboratory Medicine and Pulmonary BiologyCincinnati Children's Hospital Medical Center3333 Burnet AveCincinnatiOH45229-3039
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.
Le texte complet de cet article est disponible en PDF.Keywords : TBX4, T-box transcription factor, pulmonary hypoplasia, congenital alveolar dysplasia, lung development, ABCA3, TBX2, congenital anomaly
Abbreviations : AT2, CT, ECMO, HGMD, PAH
Plan
| Supported by National Institutes of Health/National Heart, Lung and Blood Institute U01 HL122642 “Lung Map” Atlas Research Center and the U01 HL134745 Editing Alveolar Progenitor Cells for Correction of Monogenic Disease. Technical and equipment support for the studies was provided by the Cincinnati Children’s Research Foundation Confocal Imaging Core and Pathology Research Core. The authors declare no conflicts of interest. |
© 2018
Elsevier Inc. Tous droits réservés.
Vol 206
P. 286 - mars 2019 Retour au numéro
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