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Cleft Palate in Apert Syndrome.

Delayna Willie1, Greg Holmes1, Ethylin Wang Jabs1

  • 1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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Summary

Apert syndrome, a genetic disorder, often involves cleft palate due to FGFR2 mutations. Research reviews clinical data and mouse models to understand palatal defect mechanisms for potential therapies.

Keywords:
Apert syndromeFGFFGFR2cleft palatehigh-arched palatepalatogenesispseudo-cleft palateuvula

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Anomalies

Background:

  • Apert syndrome is a rare genetic disorder characterized by craniosynostosis, midface retrusion, and limb anomalies.
  • Cleft palate occurs in a subset of Apert syndrome patients, but the underlying mechanisms are not fully understood.
  • Fibroblast Growth Factor Receptor 2 (FGFR2) mutations are identified as the genetic cause of Apert syndrome.

Purpose of the Study:

  • To investigate the pathogenic mechanisms of palatal defects in Apert syndrome.
  • To review clinical characteristics of palatal anomalies in Apert syndrome patients.
  • To analyze palatal phenotypes in Apert syndrome mouse models and explore potential signaling pathways.

Main Methods:

  • Review of clinical data from Apert syndrome patients.
  • Analysis of palatal phenotypes in established Apert syndrome mouse models.
  • Literature review of signaling pathways involved in palatogenesis and epithelial-mesenchymal interactions.

Main Results:

  • Cleft soft palate is more common than cleft hard palate in Apert syndrome patients.
  • Reduced hard palate length, high-arched palate, lateral palatal swelling, and bifid uvula are frequent findings.
  • The S252W variant of FGFR2 is most commonly associated with cleft palate in Apert syndrome.

Conclusions:

  • Apert syndrome-associated FGFR2 mutations may disrupt signaling networks crucial for epithelial-mesenchymal interactions during palate development.
  • Understanding these mechanisms can inform the development of novel therapeutic strategies for palatal defects.
  • Mouse models are valuable tools for elucidating the cellular and molecular basis of these craniofacial anomalies.