{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T07:30:05Z","timestamp":1778571005193,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T00:00:00Z","timestamp":1578960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003792","name":"Hj\u00e4rnfonden","doi-asserted-by":"publisher","award":["FO2019\u20100210"],"award-info":[{"award-number":["FO2019\u20100210"]}],"id":[{"id":"10.13039\/501100003792","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Sleep Research"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>PAX6<\/jats:italic> gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal gland atrophy or hypoplasia, leading to disturbed circadian rhythm and sleep disorders. Less is known on the coincidence of narcolepsy in this patient group. We aimed to find out whether the circadian rhythm or sleep\u2013wake structure was affected in patients with aniridia. Four members of a family segregating\u00a0with congenital aniridia in two generations were included in the study. The patients were subjected to genetic testing for a <jats:italic>PAX6<\/jats:italic> mutation, multiple sleep latency test, whole\u2010brain magnetic resonance imaging (MRI), hypocretin\u20101 in cerebrospinal fluid, and Human Leukocyte Antigen DQ beta1*06:02. All four members were heterozygous for the pathogenic c.959\u20101G&gt;A mutation in the <jats:italic>PAX6<\/jats:italic> gene. Sleep disturbance was observed in all family members. The index patient was diagnosed with narcolepsy. MRI showed a hypoplastic pineal gland in all members. We describe the first case of a patient with <jats:italic>PAX6<\/jats:italic> haploinsufficiency, aniridia and pineal gland hypoplasia diagnosed with narcolepsy type\u20101, suggesting a complex sleep disorder pathogenesis.<\/jats:p>","DOI":"10.1111\/jsr.12982","type":"journal-article","created":{"date-parts":[[2020,1,15]],"date-time":"2020-01-15T01:44:24Z","timestamp":1579052664000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Aniridia with <i>PAX6<\/i> mutations and narcolepsy"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2251-5879","authenticated-orcid":false,"given":"Shala Ghaderi","family":"Berntsson","sequence":"first","affiliation":[{"name":"Department of Neuroscience Neurology Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kristoffersson","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Neurology Uppsala University Uppsala Sweden"},{"name":"Department of Clinical and Experimental Medicine Neurology Medical Faculty University of Link\u00f6ping Link\u00f6ping Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makrina","family":"Daniilidou","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Neurology Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niklas","family":"Dahl","sequence":"additional","affiliation":[{"name":"Science for Life Laboratory Department of Immunology, Genetics and Pathology Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Curt","family":"Ekstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Ophthalmology Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Semnic","sequence":"additional","affiliation":[{"name":"Section of Neuroradiology Department of Radiology Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agneta","family":"Markstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Respiratory, Allergy, and Sleep Research Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valter","family":"Niemel\u00e4","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Neurology Uppsala University Uppsala Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markku","family":"Partinen","sequence":"additional","affiliation":[{"name":"Vitalmed Research Center Helsinki Sleep Clinic Helsinki Finland"},{"name":"Department of Clinical Neurosciences University of Helsinki Helsinki 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