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Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype

Doughty, Elizabeth S. ; Norvik, Christian LU ; Levin, Alice ; Bodmer, Jenna ; Tran-Lundmark, Karin LU ; Abman, Steven H. and Galambos, Csaba (2023) In Pediatric and Developmental Pathology
Abstract

Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
epub
subject
keywords
histopathologic correlation, lung maldevelopment, pulmonary hypertension, TBX4 variants
in
Pediatric and Developmental Pathology
publisher
SAGE Publications
external identifiers
  • pmid:37801629
  • scopus:85173762477
ISSN
1093-5266
DOI
10.1177/10935266231199933
language
English
LU publication?
yes
id
f9a8994f-b8d4-4faa-8e86-070146f57d53
date added to LUP
2024-01-12 11:00:28
date last changed
2024-04-27 06:25:46
@article{f9a8994f-b8d4-4faa-8e86-070146f57d53,
  abstract     = {{<p>Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.</p>}},
  author       = {{Doughty, Elizabeth S. and Norvik, Christian and Levin, Alice and Bodmer, Jenna and Tran-Lundmark, Karin and Abman, Steven H. and Galambos, Csaba}},
  issn         = {{1093-5266}},
  keywords     = {{histopathologic correlation; lung maldevelopment; pulmonary hypertension; TBX4 variants}},
  language     = {{eng}},
  publisher    = {{SAGE Publications}},
  series       = {{Pediatric and Developmental Pathology}},
  title        = {{Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype}},
  url          = {{http://dx.doi.org/10.1177/10935266231199933}},
  doi          = {{10.1177/10935266231199933}},
  year         = {{2023}},
}