PMID: 11343309May 9, 2001Paper

Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome

American Journal of Medical Genetics
Mary L MarazitaD E Weese-Mayer

Abstract

Idiopathic congenital central hypoventilation syndrome (CCHS) is a very rare syndrome with major respiratory complications. Hypothesizing that CCHS is the most severe manifestation of general autonomic nervous system dysfunction (ANSD), we applied a case-control family study design to investigate the genetics of ANSD. Fifty-two probands with CCHS were identified, as well as 52 age-, race-, and gender-matched controls. ANSD phenotypic features were characterized in the cases, controls, and their family members. Our earlier studies found that most ANSD symptoms were more likely in CCHS cases and their relatives than in controls and their relatives (P < 0.05). The goal of the current study was to determine if the familiality of ANSD was consistent with a genetic pattern. We performed major locus segregation analysis of ANSD utilizing regressive models. CCHS probands were assumed to be affected; controls and relatives were designated as affected if they had two or more relevant symptoms. The hypothesis of "no transmission and no familial effects" was rejected in both case and control families. Case families were consistent with transmission of a major effect; control families were not (the difference in the pattern of results was s...Continue Reading

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Citations

Jul 11, 2003·Respiratory Physiology & Neurobiology·Claude GaultierJorge Gallego
May 29, 2004·Current Opinion in Pediatrics·David Gozal
Apr 24, 2004·American Journal of Respiratory and Critical Care Medicine·Debra E Weese-Mayer, Elizabeth M Berry-Kravis
Aug 4, 2007·American Journal of Respiratory and Critical Care Medicine·Federico LavoriniJohn Widdicombe
Mar 9, 2010·American Journal of Respiratory and Critical Care Medicine·Debra E Weese-MayerUNKNOWN ATS Congenital Central Hypoventilation Syndrome Subcommittee
Aug 3, 2002·American Journal of Respiratory and Critical Care Medicine·Suchada SritippayawanThomas G Keens
Jun 19, 2015·Pediatric Pulmonology·Rehan SaiyedDebra E Weese-Mayer
Mar 8, 2013·Seminars in Pediatric Neurology·Casey M RandDebra E Weese-Mayer
Jul 6, 2010·Respiratory Physiology & Neurobiology·Pallavi P PatwariDebra E Weese-Mayer
Dec 17, 2009·Biological Psychology·Jorge Gallego, Boris Matrot
Dec 1, 2008·Sleep Medicine Clinics·Hiren Muzumdar, Raanan Arens
Aug 5, 2008·Respiratory Physiology & Neurobiology·Jorge Gallego, Stéphane Dauger
Jul 24, 2012·American Journal of Medical Genetics. Part a·Casey M RandDebra E Weese-Mayer
Aug 11, 2011·Pediatric Pulmonology·Lawrence J JenningsDebra E Weese-Mayer
Aug 2, 2005·Respiratory Physiology & Neurobiology·Debra E Weese-MayerMary L Marazita
Jun 28, 2002·The Tohoku Journal of Experimental Medicine·Masayo KanaiKiyoshi Hayasaka
Nov 5, 2013·Revue des maladies respiratoires·D E Weese-MayerUNKNOWN sous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society
May 20, 2005·Pediatric Research·Claude GaultierJorge Gallego
Jan 24, 2004·Pediatric Research·Claude GaultierMichel Simonneau
Aug 6, 2017·Journal of Medical Genetics·Malte SpielmannStefan Mundlos
Sep 20, 2002·American Journal of Medical Genetics·Jean M SilvestriFrank Cerny
Oct 31, 2002·American Journal of Medical Genetics·Ivana MateraIsabella Ceccherini
Jul 11, 2006·American Journal of Medical Genetics. Part a·Casey M RandElizabeth M Berry-Kravis
Mar 7, 2007·American Journal of Medical Genetics. Part a·Debra E Weese-MayerElizabeth M Berry-Kravis
Jan 30, 2010·Journal of Applied Physiology·Michael S CarrollDebra E Weese-Mayer
May 8, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Amy ZhouDebra E Weese-Mayer

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