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Article

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

American journal of medical genetics. Part A - 1 May 2017

Cain Jacob T, Kim Dae I, Quast Megan, Shivega Winnie G, Patrick Ryan J, Moser Chuanpit, Reuter Suzanne, Perez Myrza, Myers Angela, Weimer Jill M, Roux Kyle J, Landsverk Megan

Abstract excerpt

Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however...

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Identifiers

PMID: 28371199
DOI: 10.1002/ajmg.a.38162
PMCID: PMC5397359

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