Abstract：
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.
journal_name
Respir Physiol Neurobioljournal_title
Respiratory physiology & neurobiologyauthors
Barclay SF,Rand CM,Gray PA,Gibson WT,Wilson RJ,Berry-Kravis EM,Ize-Ludlow D,Bech-Hansen NT,Weese-Mayer DEdoi
10.1016/j.resp.2015.11.002subject
Has Abstractpub_date
2016-01-15 00:00:00pages
59-63eissn
1569-9048issn
1878-1519pii
S1569-9048(15)30075-6journal_volume
221pub_type
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