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Updated: Oct 29, 2025

Direct Mouse Trauma/Burn Model of Heterotopic Ossification
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Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia.

Antonio José Justicia-Grande1,2, Jose Gómez-Ríal1,3, Irene Rivero-Calle1,4

  • 1Genetics, Vaccines, Infectious Diseases and Pediatrics Research Group (GENVIP Group), Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.

Frontiers in Pediatrics
|July 12, 2021
PubMed
Summary

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Progressive osseous heteroplasia (POH) is a rare genetic disorder. This study highlights that factors beyond genetics influence POH severity, even in identical twins, and notes the lack of effective treatments.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Background:

  • Progressive osseous heteroplasia (POH) is a rare autosomal-dominant disorder characterized by extraskeletal bone formation.
  • POH results from inactivating mutations in the GNAS gene, which presents challenges due to genetic imprinting and diverse transcript products.
  • Existing literature primarily consists of case reports and limited correlation between clinical and molecular findings, with a significant gap in treatment strategies.

Observation:

  • A unique case of POH in monochorionic twins with identical GNAS mutations is presented.
  • The twins exhibited markedly different clinical phenotypes, ranging from nearly asymptomatic to severe disease progression.
  • Therapeutic interventions for heterotopic ossification were administered to the severely affected twin, with outcomes reported.
Keywords:
POHgenetic diseasesmonochorionic twinsprogressive osseous heteroplasiatreatment

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Findings:

  • The study supports that factors beyond the genetic background significantly influence the clinical course of POH.
  • Despite sharing the same GNAS mutation, the twins displayed disparate disease severity, indicating crucial non-genetic influences.
  • The limited efficacy of current therapeutic interventions for POH, even those with promising in vitro results, is underscored.

Implications:

  • This research emphasizes the complex interplay of genetic and non-genetic factors in POH pathogenesis.
  • It highlights the urgent need for novel therapeutic strategies and treatment options for patients with this rare orphan disease.
  • The findings call for further investigation into the underlying mechanisms that modulate POH severity and treatment response.