Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD

Sarah F. Barclay*, Casey M. Rand, Paul A. Gray, William T. Gibson, Richard J.A. Wilson, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, N. Torben Bech-Hansen, Debra E. Weese-Mayer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Background and objectives: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare pediatric disease of unknown cause. Here, in response to a recent case report describing a ROHHAD patient who suffered from secondary narcolepsy confirmed by an absence of hypocretin-1 in the cerebrospinal fluid, we consider whether the ROHHAD phenotype is owing to one or more mutations in genes specific to hypocretin protein signalling. Methods: DNA samples from 16 ROHHAD patients were analyzed using a combination of next-generation and Sanger sequencing to identify exonic sequence variations in three genes: HCRT, HCRTR1, and HCRTR2. Results: No rare or novel mutations were identified in the exons of HCRT, HCRTR1, or HCRTR2 genes in a set of 16 ROHHAD patients. Conclusions: ROHHAD is highly unlikely to be caused by mutations in the exons of the genes for hypocretin and its two receptors.

Original languageEnglish (US)
Pages (from-to)59-63
Number of pages5
JournalRespiratory Physiology and Neurobiology
StatePublished - Jan 15 2016


  • Autonomic dysregulation
  • Exome sequencing
  • Genes
  • HCRT
  • HCRTR1
  • HCRTR2
  • Hyothalamic dysfunction
  • Hypocretin
  • Hypoventilation
  • Mutations
  • Narcolepsy
  • Next-generation sequencing
  • Obesity
  • Orexin

ASJC Scopus subject areas

  • General Neuroscience
  • Physiology
  • Pulmonary and Respiratory Medicine


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