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

Respiratory Physiology & Neurobiology（2016）

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摘要

•A 2013 report described a ROHHAD patient with narcolepsy and altered hypocretin-1 levels.•We evaluated the genes encoding hypocretin and its two receptors as candidate genes for ROHHAD.•We searched for coding mutations in 16 ROHHAD patients in HCRT, HCRTR1, and HCRTR2.•We did not identify any potentially causative mutations.•Mutations in HCRT, HCRTR1, and HCRTR2 are not a major cause of ROHHAD.

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关键词

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

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