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CCHS is characterized by lack of ventilatory chemosensitivity caused by<jats:italic>PHOX2B<\/jats:italic>gene abnormalities consisting mainly of alanine expansions. RTT is associated with episodes of tachypneic and irregular breathing intermixed with breathholds and apneas and is caused by mutations in the X\u2010linked<jats:italic>MECP2<\/jats:italic>gene encoding methyl\u2010CpG\u2010binding protein. PWS manifests as sleep\u2010disordered breathing with apneas and episodes of hypoventilation and is caused by the loss of a group of paternally inherited genes on chromosome 15. CCHS is the most specific disorder of respiratory control, whereas the breathing disorders in RTT and PWS are components of a more general developmental disorder. The main clinical features of these three disorders are reviewed with special emphasis on the associated brain abnormalities. In all three syndromes, disease\u2010causing genetic defects have been identified, allowing the development of genetically engineered mouse models. New directions for future therapies based on these models or, in some cases, on clinical experience are delineated. Studies of CCHS, RTT, and PWS extend our knowledge of the molecular and cellular aspects of respiratory rhythm generation and suggest possible pharmacological approaches to respiratory control disorders. This knowledge is relevant for the clinical management of many respiratory disorders that are far more prevalent than the rare diseases discussed here. \u00a9 2012 American Physiological Society.<jats:italic>Compr Physiol<\/jats:italic>2:2255\u20102279, 2012.<\/jats:p>","DOI":"10.1002\/cphy.c100037","type":"other","created":{"date-parts":[[2012,6,26]],"date-time":"2012-06-26T22:44:57Z","timestamp":1340750697000},"page":"2255-2279","source":"Crossref","is-referenced-by-count":13,"title":["Genetic Diseases: Congenital Central Hypoventilation, Rett, and Prader\u2010Willi Syndromes"],"prefix":"10.1002","author":[{"given":"Jorge","family":"Gallego","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1012104107"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1569-9048(02)00031-9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3223(97)00519-2"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1737.49411"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.resp.2009.03.005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1130"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053959"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<69::AID-AJMG12>3.0.CO;2-W"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.09.011"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1567-133X(03)00138-8"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200605-607CR"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31133"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033464"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.153.1.8542130"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199503000-00006"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2006.08.014"},{"key":"e_1_2_6_19_1","first-page":"71","volume-title":"PHOX2B 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