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

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

来源：Respiratory Physiology & Neurobiology, 2016, 221: 59-63.

DOI：10.1016/j.resp.2015.11.002

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

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.

• 出版日期2016-1-15
• 单位西北大学