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

Barclay, S. F.; Rand, C. M.; Gray, P. A.; Gibson, W. T.; Wilson, R. J.; Berry-Kravis, E. M.; Ize-Ludlow, D.; Bech-Hansen, N. T.; Weese-Mayer, D. E.

Respir Physiol Neurobiol. 2015 Nov 12; 221:59-63


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.

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