Sarah F Barclay1, Casey M Rand2, Paul A Gray3, William T Gibson4, Richard J A Wilson5, Elizabeth M Berry-Kravis6, Diego Ize-Ludlow7, N Torben Bech-Hansen8, Debra E Weese-Mayer9. 1. Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada. Electronic address: sarah.barclay@ucalgary.ca. 2. Center for Autonomic Medicine in Pediatrics (CAMP) in Stanley Manne Children's Research Institute and in Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. Electronic address: CRand@luriechildrens.org. 3. Department of Anatomy and Neurobiology, Washington University of Medicine, St. Louis, MO, USA. Electronic address: pgray@pcg.wustl.edu. 4. Department of Medical Genetics, University of British Columbia and Child & Family Research Institute, Vancouver, BC, Canada. Electronic address: wtgibson@cfri.ubc.ca. 5. Department of Physiology and Pharmacology, Alberta Children's Hospital Research Institute and Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. Electronic address: wilsonr@ucalgary.ca. 6. Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL, USA. Electronic address: Elizabeth_Berry-Kravis@rush.edu. 7. Department of Pediatrics, Division of Pediatric Endocrinology at University of Illinois at Chicago, Chicago, IL, USA. Electronic address: diegoize@uic.edu. 8. Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada. Electronic address: ntbech@ucalgary.ca. 9. Center for Autonomic Medicine in Pediatrics (CAMP) in Stanley Manne Children's Research Institute and in Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address: D-Weese-Mayer@Northwestern.edu.
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.
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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