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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Pediatric disorders with autonomic dysfunction: what role for PHOX2B?

Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome can occur in combination, and familial cases have been reported in all three conditions. This suggests variable expression of a single genetic abnormality as the common cause to these neural crest disorders. Because the PHOX2B gene is pivotal in the development of most relays of the autonomic nervous system, including all autonomic neural crest derivatives, it was considered a candidate gene for the above conditions. Recent studies have shown that 1) PHOX2B is the main disease-causing gene for congenital central hypoventilation syndrome, an autosomal dominant disorder with incomplete penetrance; 2) PHOX2B is the first gene for which germline mutations have been demonstrated to predispose to neuroblastoma; and 3) Hirschsprung disease was associated with an intronic single-nucleotide polymorphism of the PHOX2B gene in a case-control study. For clarifying the variable clinical expression of the autonomic nervous system dysfunction observed in neural crest disorders, international databases of clinical symptoms and molecular test results should be established. Furthermore, the development of genetic mouse models should help to improve our understanding of the molecular mechanisms underlying neural crest disorders.[1]


  1. Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Gaultier, C., Trang, H., Dauger, S., Gallego, J. Pediatr. Res. (2005) [Pubmed]
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