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CCHS is caused by mutations in paired\u2010like homeobox 2b (<jats:italic>PHOX2B<\/jats:italic>) and is inherited in an autosomal dominant pattern. A co\u2010occurrence of two asymptomatic <jats:italic>PHOX2B<\/jats:italic> variants with a classical CCHS presentation highlights the importance of clinical <jats:italic>PHOX2B<\/jats:italic> testing in parents and family members of all CCHS probands. Despite being an autosomal dominant disease, once a polyalanine repeat expansion mutation has been identified, sequencing of the other allele should also be considered.<\/jats:p>","DOI":"10.1002\/ajmg.a.61047","type":"journal-article","created":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T14:49:26Z","timestamp":1548341366000},"page":"503-506","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Congenital central hypoventilation syndrome: Severe disease caused by co\u2010occurrence of two <i>PHOX2B<\/i> variants inherited separately from asymptomatic family members"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5304-896X","authenticated-orcid":false,"given":"Yakov","family":"Sivan","sequence":"first","affiliation":[{"name":"Department of Pediatric Pulmonology and Sleep, Safra Children's Hospital, Sheba Medical Center Tel Aviv University, Sackler Faculty of Medicine  Tel Aviv\u2010Yafo Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Zhou","sequence":"additional","affiliation":[{"name":"Division of Pediatric Autonomic Medicine Ann &amp; Robert H. 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