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Brief Communication

Nature Genetics 33, 459–461 (1 April 2003) | doi:10.1038/ng1130

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel , B|[eacute]|atrice Laudier , Tania Atti|[eacute]|-Bitach , Ha Trang , Lo|[iuml]|c de Pontual , Blanca Gener , Delphine Trochet , Heather Etchevers , Pierre Ray , Michel Simonneau , Michel Vekemans , Arnold Munnich , Claude Gaultier & Stanislas Lyonnet

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core phenotype is associated with lower-penetrance anomalies of the autonomic nervous system (ANS) including Hirschsprung disease and tumors of neural-crest derivatives such as ganglioneuromas and neuroblastomas.