TY - JOUR
T1 - Genetic testing for neonatal respiratory disease
AU - Nogee, Lawrence M.
AU - Ryan, Rita M.
N1 - Funding Information:
Funding: Supported by NIH U01HL134745 (LMN, J.A. Whitsett, PI) and the Eudowood Foundation (L.M.N.). (L.M.N.). Institutional Review Board Statement: The study was conducted according to the guidelines of the Institutional Review Board Statement: The study was conducted according to the guidelines of the Declaration of Helsinki, and approved by the Institutional Review Board of Johns Hopkins Medicine (protocol NA_00045539, most recent approval 10 May 2020.) Informed Consent Statement: Informed consent was obtained from all subjects involved in this Informed Consent Statement: Informed consent was obtained from all subjects involved in this study, or from a parent for infants unable to give consent. Data Availability Statement: The data presented in this study are available on request from the Data Availability Statement: The data presented in this study are available on request from the corresponding author. The data are not publicly available due to privacy. corresponding author. The data are not publicly available due to privacy. Acknowledgments: The authors wish to thank their many collaborators over the years, including Acknowledgments: The authors wish to thank their many collaborators over the years, including Jeffrey A. Whitsett, Timothy E. Weaver, Susan Wert, Aaron Hamvas, Jennifer A. Wambach, F. Sessions Jeffrey A. Whitsett, Timothy E. Weaver, Susan Wert, Aaron Hamvas, Jennifer A. Wambach, F. Ses-Cole, Robin Deterding, Lisa Young, as well as the many families who participated in research studies sions Cole, Robin Deterding, Lisa Young, as well as the many families who participated in research and their physicians. studies and their physicians. Conflicts of Interest: L.M.N. receives royalties from Wolters-Kluwer for contributions to UpToDate, Conflicts of Interest: L.M.N. receives royalties from Wolters-Kluwer for contributions to UpToDate, and serves as an unpaid consultant to the Johns Hopkins DNA Diagnostic Laboratory for help with and serves as an unpaid consultant to the Johns Hopkins DNA Diagnostic Laboratory for help with interpretation of variants in surfactant-related genes. R.M.R. has nothing to disclose. interpretation of variants in surfactant-related genes. R.M.R. has nothing to disclose.
Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2021/3
Y1 - 2021/3
N2 - Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes potentially responsible for neonatal lung disease include those encoding proteins important in surfactant function and metabolism, transcription factors important in lung development, proteins involved in ciliary assembly and function, and various other structural and immune regulation genes. The phenotypes of infants with genetic causes of neonatal lung disease may have some features that are difficult to distinguish clinically from more common, reversible causes of lung disease, and from each other. Multigene panels are now available that can allow for a specific diagnosis, providing important information for treatment and prognosis. This review discusses genes in which abnormalities are known to cause neonatal lung disease and their associated phenotypes, and advantages and limitations of genetic testing.
AB - Genetic mechanisms are now recognized as rare causes of neonatal lung disease. Genes potentially responsible for neonatal lung disease include those encoding proteins important in surfactant function and metabolism, transcription factors important in lung development, proteins involved in ciliary assembly and function, and various other structural and immune regulation genes. The phenotypes of infants with genetic causes of neonatal lung disease may have some features that are difficult to distinguish clinically from more common, reversible causes of lung disease, and from each other. Multigene panels are now available that can allow for a specific diagnosis, providing important information for treatment and prognosis. This review discusses genes in which abnormalities are known to cause neonatal lung disease and their associated phenotypes, and advantages and limitations of genetic testing.
KW - Interstitial lung disease
KW - Persistent pulmonary hypertension of the newborn
KW - Primary ciliary dyskinesia
KW - Pulmonary surfactant
KW - Respiratory distress syndrome
UR - https://www.scopus.com/pages/publications/85113414537
UR - https://www.scopus.com/pages/publications/85113414537#tab=citedBy
U2 - 10.3390/children8030216
DO - 10.3390/children8030216
M3 - Article
C2 - 33799761
AN - SCOPUS:85113414537
SN - 2227-9067
VL - 8
JO - Children
JF - Children
IS - 3
M1 - 216
ER -