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Pediatric disorders with autonomic dysfunction: what role for PHOX2B?

Claude Gaultier1, Ha Trang, Stéphane Dauger

  • 1Service de Physiologie, Hôpital Robert Debré, 48 Boulevard Serurier, 75019 Paris, France. claude.gaultier@rdb.ap-hop-paris.fr

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The PHOX2B gene is implicated in Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome, suggesting a common genetic cause for these neural crest disorders. Further research is needed to understand the variable clinical expressions.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Neuroscience

Background:

  • Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome are neural crest disorders that can co-occur, with familial cases suggesting a shared genetic etiology.
  • The PHOX2B gene is crucial for autonomic nervous system development, making it a strong candidate gene for these conditions.

Purpose of the Study:

  • To investigate the role of the PHOX2B gene in neural crest disorders, including Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome.
  • To clarify the variable clinical expression of autonomic nervous system dysfunction in these disorders.

Main Methods:

  • Review of recent studies on PHOX2B gene mutations and polymorphisms in relation to Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome.
  • Analysis of existing clinical and molecular data.

Main Results:

  • PHOX2B is the primary cause of congenital central hypoventilation syndrome, an autosomal dominant disorder with incomplete penetrance.
  • Germline mutations in PHOX2B predispose individuals to neuroblastoma.
  • An intronic single-nucleotide polymorphism in the PHOX2B gene is associated with Hirschsprung disease.

Conclusions:

  • The PHOX2B gene plays a significant role in multiple neural crest disorders, explaining their co-occurrence and variable clinical presentations.
  • Establishing international databases and developing genetic mouse models are crucial for further understanding the molecular mechanisms and clinical variability of these disorders.