{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:15:13Z","timestamp":1780564513753,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aym\u00e9\u2010Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the <jats:italic>MAF<\/jats:italic> gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a characteristic facial appearance. In a proportion of individuals, pericardial effusion or pericarditis has been reported as part of the phenotypic spectrum. In the present case, a large persistent cytokine\u2010enriched pericardial effusion was the main pre\u2010 and postnatal symptom that led to the clinical and later molecular diagnosis of Aym\u00e9\u2010Gripp syndrome. In the postnatal course, the typical Aym\u00e9\u2010Gripp syndrome\u2010associated features bilateral cataracts and hearing loss were diagnosed. We propose that activating dominant variants in the cytokine\u2010modulating transcription factor c\u2010MAF causes cytokine\u2010enriched pericardial effusions possibly representing a key feature of Aym\u00e9\u2010Gripp syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62540","type":"journal-article","created":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T06:27:48Z","timestamp":1634106468000},"page":"624-627","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Isolated cytokine\u2010enriched pericardial effusion: A likely key feature for <scp>Aym\u00e9\u2010Gripp<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Anna\u2010Lina","family":"K\u00f6nig","sequence":"first","affiliation":[{"name":"Department of Neonatology and Pediatric Intensive Care Medicine University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemmen","family":"Sabir","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatric Intensive Care Medicine University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Strizek","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Prenatal Medicine University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"Gembruch","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Prenatal Medicine University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Herberg","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Grasshoff","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gesa","family":"Wiegand","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Intensive Care Medicine and Pulmonology University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Wiechers","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Intensive Care Medicine and Pulmonology University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugenia","family":"Bernis","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatric Intensive Care Medicine University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3591-5265","authenticated-orcid":false,"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatric Intensive Care Medicine University Clinics of Bonn  Bonn Germany"},{"name":"Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatric and Adolescent Medicine University Hospital Erlangen  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Neonatology and Pediatric Intensive Care Medicine University Clinics of Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61299"},{"key":"e_1_2_7_3_1","unstructured":"Amudhavalli S. 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