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

Elizabeth S Doughty1, Christian Norvik2,3, Alice Levin4

  • 1Department of Pathology and Laboratory Medicine, The University of Colorado Hospital, Aurora, CO, USA.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|October 6, 2023
PubMed

Insights

Genetic variations in the T-box transcription factor 4 gene (TBX4) are linked to pulmonary arterial hypertension (PAH). This case study details a 24-year-old male with a TBX4 variant, highlighting complex lung pathology and lethal outcomes.

Area of Science:

  • Pulmonary Hypertension Research
  • Genetics and Molecular Biology
  • Developmental Biology

Background:

  • T-box transcription factor 4 (TBX4) is crucial for lung development, influencing airway branching and distal lung growth.
  • Genetic variations in TBX4 are increasingly associated with pediatric-onset pulmonary arterial hypertension (PAH).
  • TBX4-related PAH exhibits a bimodal age distribution, affecting newborns and older children/adults.

Observation:

  • An autopsy study was conducted on a 24-year-old male with a heterozygous TBX4 variant.
  • This individual developed pulmonary arterial hypertension at 12 years of age.
  • The case presented complex pulmonary histopathology.

Findings:

  • The patient's heterozygous TBX4 variant was associated with the development of pulmonary arterial hypertension.
  • The complex pulmonary histopathology observed contributed to lethal cardiopulmonary failure.
  • This case underscores the severe clinical manifestations of TBX4 mutations in PAH.

Implications:

  • This case expands the understanding of TBX4-related pulmonary arterial hypertension, particularly in later-onset forms.
  • It highlights the critical role of TBX4 in maintaining pulmonary vascular health throughout life.
  • Further research into TBX4's function may reveal novel therapeutic targets for pulmonary arterial hypertension.

Keywords:
TBX4 variantshistopathologic correlationlung maldevelopmentpulmonary hypertension

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