{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:37:43Z","timestamp":1791398263246,"version":"4.3.3"},"reference-count":29,"publisher":"European Respiratory Society (ERS)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2006,9,21]]},"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p>Congenital central hypoventilation syndrome is a rare disorder characterised by chronic alveolar hypoventilation, which becomes more pronounced during sleep and may be associated with neurocristopathies, such as Hirchsprung's disease. A mutation in the<jats:italic>PHOX2B<\/jats:italic>gene has recently been identified.<\/jats:p><jats:p>In a family of both parents and five offspring, detailed clinical assessment, pulmonary function testing, overnight sleep studies and ventilatory responsiveness to progressive hypercapnia (<jats:italic>V<\/jats:italic>\u2032<jats:sub>R,CO<jats:sub>2<\/jats:sub><\/jats:sub>) were performed, in addition to analysis of known genetic loci for this condition.<\/jats:p><jats:p>The father and four of the offspring demonstrated features of central hypoventilation with nonapnoeic oxygen desaturation during sleep and diminished<jats:italic>V<\/jats:italic>\u2032<jats:sub>R,CO<jats:sub>2<\/jats:sub><\/jats:sub>, despite normal pulmonary function. The lowest sleep saturation was median (range) 79% (67\u201383%) and<jats:italic>V<\/jats:italic>\u2032<jats:sub>R,CO<jats:sub>2<\/jats:sub><\/jats:sub>was 2.1 (0.03\u20134.3)\u2005L\u00b7min<jats:sup>-1<\/jats:sup>\u00b7kPa<jats:sup>-1<\/jats:sup>. The normal values for the authors\u2019 centre (St Vincent's University Hospital, Dublin, Ireland) are 15\u201340\u2005L\u00b7min<jats:sup>-1<\/jats:sup>\u00b7kPa<jats:sup>-1<\/jats:sup>. An in-frame five amino acid polyalanine expansion of the<jats:italic>PHOX2B<\/jats:italic>gene was found in all affected subjects, while the mother and fifth child, who did not have features of central hypoventilation, had a normal<jats:italic>PHOX2B<\/jats:italic>gene. Magnetic resonance imaging of the brainstem in one severely affected child was normal.<\/jats:p><jats:p>The present study of a unique family confirms that transmission of late-onset congenital central hypoventilation syndrome is autosomal dominant in nature.<\/jats:p>","DOI":"10.1183\/09031936.00001606","type":"journal-article","created":{"date-parts":[[2007,2,2]],"date-time":"2007-02-02T19:26:40Z","timestamp":1170444400000},"page":"312-316","source":"Crossref","is-referenced-by-count":42,"title":["Late-onset central hypoventilation syndrome: a family genetic study"],"prefix":"10.1183","volume":"29","author":[{"given":"L. S.","family":"Doherty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. L.","family":"Kiely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. 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