{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T09:56:29Z","timestamp":1771926989013,"version":"3.50.1"},"reference-count":14,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T00:00:00Z","timestamp":1770768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We report a thirty-six-year-old woman with intellectual disability who was referred for evaluation of suspected obstructive sleep apnea. The initial clinical impression suggested a syndromic case, so comprehensive genetic testing was undertaken. Overnight polysomnography revealed a severe rapid eye movement\u2013predominant obstructive sleep apnea syndrome with an apnea\u2013hypopnea index of 31.9 events per hour, rapid eye movement apnea\u2013hypopnea index of 113.8 events per hour, and lowest oxygen saturation of 66%. Treatment with continuous positive airway pressure improved respiratory and sleep quality indices and was well tolerated. Whole-exome sequencing identified a de novo splice site variant in the pleckstrin homology domain interacting protein gene (c.41-1G &gt; A), confirming a molecular diagnosis of Chung\u2013Jansen Syndrome. Chung\u2013Jansen syndrome is a rare neurodevelopmental disorder caused by heterozygous pathogenic variants in the pleckstrin homology domain interacting protein gene, marked by developmental delay, intellectual disability, behavioral abnormalities, dysmorphism, and progressive obesity. PHIP influences central and peripheral pathways controlling satiety, pancreatic function, and body weight. Despite frequent reports of sleep problems, systematic evaluation of sleep-disordered breathing has been limited. This adult case provides the first polysomnographic confirmation in the syndrome, supporting proactive screening for obstructive sleep apnea\u2014especially in those with obesity. Integrating genetic assessment into sleep care can reduce diagnostic delays and better guide therapy and prognosis.<\/jats:p>","DOI":"10.3390\/ijms27041736","type":"journal-article","created":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T17:45:36Z","timestamp":1770831936000},"page":"1736","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sleep-Disordered Breathing in Chung\u2013Jansen Syndrome"],"prefix":"10.3390","volume":"27","author":[{"given":"Katerina","family":"Vlami","sequence":"first","affiliation":[{"name":"2nd Pulmonary Medicine Department, Medical School, General University Hospital \u201cAttikon\u201d, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5826-0556","authenticated-orcid":false,"given":"Konstantina","family":"Kosma","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, St. Sophia\u2019s Children\u2019s Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2733-8611","authenticated-orcid":false,"given":"Lamprini","family":"Athanasopoulou","sequence":"additional","affiliation":[{"name":"2nd Pulmonary Medicine Department, Medical School, General University Hospital \u201cAttikon\u201d, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eirini","family":"Kokiou","sequence":"additional","affiliation":[{"name":"2nd Pulmonary Medicine Department, Medical School, General University Hospital \u201cAttikon\u201d, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6916-2268","authenticated-orcid":false,"given":"Vasileios","family":"Paraschou","sequence":"additional","affiliation":[{"name":"2nd Pulmonary Medicine Department, Medical School, General University Hospital \u201cAttikon\u201d, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gerogianni","sequence":"additional","affiliation":[{"name":"Endocrine Unit, 2nd Department of Propaedeutic Internal Medicine, Attikon University Hospital, School of Medicine, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4278-9922","authenticated-orcid":false,"given":"Stylianos","family":"Loukides","sequence":"additional","affiliation":[{"name":"2nd Pulmonary Medicine Department, Medical School, General University Hospital \u201cAttikon\u201d, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3538-2534","authenticated-orcid":false,"given":"Melpomeni","family":"Peppa","sequence":"additional","affiliation":[{"name":"Endocrine Unit, 2nd Department of Propaedeutic Internal Medicine, Attikon University Hospital, School of Medicine, National and Kapodistrian University of Athens, Rimini 1 Str., 12462 Haidari, Greece"},{"name":"3rd Department of Internal Medicine, Sotiria General Hospital for Chest Diseases, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,2,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1038\/s41431-017-0039-5","article-title":"A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency","volume":"26","author":"Jansen","year":"2018","journal-title":"Eur. 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