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Causative and common PHOX2B variants define a broad phenotypic spectrum.

Tiziana Bachetti1, Isabella Ceccherini2

  • 1Laboratorio Neurobiologia dello Sviluppo, Dipartimento di Scienze della Terra dell'Ambiente e della Vita (DISTAV), Università di Genova, Genova, Italy.

Clinical Genetics
|August 25, 2019
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Summary

The PHOX2B gene is vital for autonomic nervous system development. Mutations in PHOX2B cause congenital central hypoventilation syndrome (CCHS) and other neurodevelopmental disorders.

Keywords:
Hirschsprung diseasePHOX2Bcongenital central hypoventilation syndromeneuroblastomaphenotypic spectrumpolyalanine expansionsynonymous mutations

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • The PHOX2B gene is essential for autonomic nervous system (ANS) development.
  • Mutations in PHOX2B are the primary cause of congenital central hypoventilation syndrome (CCHS).
  • PHOX2B mutations are categorized into PolyAlanine Repeat Mutations (PARMs) and Non-PARMs, with distinct clinical associations.

Purpose of the Study:

  • To review the role of PHOX2B in ANS development.
  • To discuss PHOX2B mutations, common variants, and gene expression deregulation in ANS disorders.
  • To explore the phenotypic heterogeneity associated with PHOX2B alterations.

Main Methods:

  • Literature review of PHOX2B gene function and associated disorders.
  • Analysis of mutation types (PARMs, NPARMs) and their clinical correlations.
  • Discussion of common variants and gene expression effects on ANS disorders.

Main Results:

  • PARMs are mainly linked to isolated CCHS, while NPARMs are associated with syndromic CCHS (neuroblastoma, Hirschsprung disease).
  • Common and hypomorphic PHOX2B variants may contribute to apparent life-threatening events (ALTE), SIDS, neuroblastoma, and Hirschsprung disease.
  • Synonymous variants and polyalanine contractions require further investigation for their role in ANS disorders.

Conclusions:

  • PHOX2B plays a complex role in ANS development and disease pathogenesis.
  • Understanding PHOX2B variants and expression is crucial for diagnosing and managing ANS disorders.
  • Further research is needed to elucidate the mechanisms underlying PHOX2B's phenotypic variability.