Neonatal Lung Disease Associated with TBX4 Mutations

Kristen Suhrie; Nathan M. Pajor; Shawn K. Ahlfeld; D. Brian Dawson; Kevin R. Dufendach; Joseph A. Kitzmiller; Daniel Leino; Rachel C. Lombardo; Teresa A. Smolarek; Pamela A. Rathbun; Jeffrey A. Whitsett; Christopher Towe; Kathryn A. Wikenheiser-Brokamp

doi:10.1016/j.jpeds.2018.10.018

Neonatal Lung Disease Associated with TBX4 Mutations

Kristen Suhrie, Nathan M. Pajor, Shawn K. Ahlfeld, D. Brian Dawson, Kevin R. Dufendach, Joseph A. Kitzmiller, Daniel Leino, Rachel C. Lombardo, Teresa A. Smolarek, Pamela A. Rathbun, Jeffrey A. Whitsett, Christopher Towe, Kathryn A. Wikenheiser-Brokamp

Research output: Contribution to journal › Article › peer-review

37 Scopus citations

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.

Original language	English (US)
Pages (from-to)	286-292.e1
Journal	Journal of Pediatrics
Volume	206
DOIs	https://doi.org/10.1016/j.jpeds.2018.10.018
State	Published - Mar 2019

Keywords

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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.jpeds.2018.10.018

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@article{6f65e21ee3c94ef4b760bb9dca45fc57,

title = "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",

author = "Kristen Suhrie and Pajor, {Nathan M.} and Ahlfeld, {Shawn K.} and Dawson, {D. Brian} and Dufendach, {Kevin R.} and Kitzmiller, {Joseph A.} and Daniel Leino and Lombardo, {Rachel C.} and Smolarek, {Teresa A.} and Rathbun, {Pamela A.} and Whitsett, {Jeffrey A.} and Christopher Towe and Wikenheiser-Brokamp, {Kathryn A.}",

note = "Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",

year = "2019",

month = mar,

doi = "10.1016/j.jpeds.2018.10.018",

language = "English (US)",

volume = "206",

pages = "286--292.e1",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

}

TY - JOUR

T1 - Neonatal Lung Disease Associated with TBX4 Mutations

AU - Suhrie, Kristen

AU - Pajor, Nathan M.

AU - Ahlfeld, Shawn K.

AU - Dawson, D. Brian

AU - Dufendach, Kevin R.

AU - Kitzmiller, Joseph A.

AU - Leino, Daniel

AU - Lombardo, Rachel C.

AU - Smolarek, Teresa A.

AU - Rathbun, Pamela A.

AU - Whitsett, Jeffrey A.

AU - Towe, Christopher

AU - Wikenheiser-Brokamp, Kathryn A.

PY - 2019/3

Y1 - 2019/3

N2 - 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.

AB - 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.

KW - ABCA3

KW - T-box transcription factor

KW - TBX2

KW - TBX4

KW - congenital alveolar dysplasia

KW - congenital anomaly

KW - lung development

KW - pulmonary hypoplasia

UR - http://www.scopus.com/inward/record.url?scp=85059634568&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85059634568&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2018.10.018

DO - 10.1016/j.jpeds.2018.10.018

M3 - Article

C2 - 30413314

AN - SCOPUS:85059634568

SN - 0022-3476

VL - 206

SP - 286-292.e1

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Neonatal Lung Disease Associated with TBX4 Mutations

Abstract

Keywords

ASJC Scopus subject areas

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