Congenital central hypoventilation syndrome

Definition:

Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system. In particular, the ASCL1-PHOX2A-PHOX2B developmental cascade was proposed as a candidate pathway. Recently, It has been showed that PHOX2B is the major CCHS locus, whose mutation accounts for 60% of cases.

References:

[1]. Ayako Sasaki, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum Genet. 2003 Dec;114(1):22-6. [Content Brief]

[2]. Jeanne Amiel, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet. 2003 Apr;33(4):459-61. [Content Brief]

[3]. Loïc de Pontual, et al. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet. 2003 Dec 1;12(23):3173-80. [Content Brief]

[4]. Luis Rodrigo Hernandez-Miranda, et al. Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13021-13026. [Content Brief]

[5]. Malte Spielmann, et al. Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. J Med Genet. 2017 Nov;54(11):754-761. [Content Brief]

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