Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD
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- 作者：Sarah F. Barclaya ; sarah.barclay@ucalgary.ca" class="auth_mail" title="E-mail the corresponding author ; Casey M. Randb ; CRand@luriechildrens.org" class="auth_mail" title="E-mail the corresponding author ; Paul A. Grayc ; pgray@pcg.wustl.edu" class="auth_mail" title="E-mail the corresponding author ; William T. Gibsond ; wtgibson@cfri.ubc.ca" class="auth_mail" title="E-mail the corresponding author ; Richard J.A. Wilsone ; wilsonr@ucalgary.ca" class="auth_mail" title="E-mail the corresponding author ; Elizabeth M. Berry-Kravisf ; Elizabeth_Berry-Kravis@rush.edu" class="auth_mail" title="E-mail the corresponding author ; Diego Ize-Ludlowg ; diegoize@uic.edu" class="auth_mail" title="E-mail the corresponding author ; N. Torben Bech-Hansena ; 1 ; ntbech@ucalgary.ca" class="auth_mail" title="E-mail the corresponding author ; Debra E. Weese-Mayerb ; h ; 1 ; D-Weese-Mayer@Northwestern.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：ROHHAD ; Hypocretin ; Orexin ; Narcolepsy ; Genes ; Mutations ; Next-generation sequencing ; Exome sequencing ; Obesity ; Hypoventilation ; Hyothalamic dysfunction ; Autonomic dysregulation ; HCRT ; HCRTR1 ; HCRTR2
- 刊名：Respiratory Physiology & Neurobiology
- 出版年：2016
- 出版时间：15 January 2016
- 年：2016
- 卷：221
- 期：Complete
- 页码：59-63
- 全文大小：382 K
文摘
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A 2013 report described a ROHHAD patient with narcolepsy and altered hypocretin-1 levels.
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We evaluated the genes encoding hypocretin and its two receptors as candidate genes for ROHHAD.
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We searched for coding mutations in 16 ROHHAD patients in HCRT, HCRTR1, and HCRTR2.
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We did not identify any potentially causative mutations.
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Mutations in HCRT, HCRTR1, and HCRTR2 are not a major cause of ROHHAD.