{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T06:44:02Z","timestamp":1764225842155,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T00:00:00Z","timestamp":1674604800000},"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":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cardiac\u2010urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (<jats:italic>MYRF<\/jats:italic>) gene that leads to loss of protein function. MYRF is a transcription factor previously associated only with the control of myelin\u2010related gene expression. However, it is also highly expressed in other tissues and associated with various organ anomalies. The clinical picture is primarily dominated by complex congenital cardiac developmental defects, pulmonary hypoplasia, congenital diaphragmatic hernia, and urogenital malformations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We present case reports of two siblings of unrelated parents in whom whole\u2010exome sequencing was indicated due to familial occurrence of extensive developmental defects. A new, previously undescribed splicing pathogenic variant c.1388+2T&gt;G in the <jats:italic>MYRF<\/jats:italic> gene has been identified in both patients. Both parents are unaffected, tested negative, and have another healthy daughter. The identical de novo event in siblings suggests gonadal mosaicism, which can mimic recessive inheritance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>To our knowledge, this is the first published case of familial cardiac\u2010urogenital syndrome indicating gonadal mosaicism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2139","type":"journal-article","created":{"date-parts":[[2023,1,25]],"date-time":"2023-01-25T09:39:18Z","timestamp":1674639558000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Two sisters with cardiac\u2010urogenital syndrome secondary to pathogenic splicing variant in the <i>MYRF<\/i> gene with unaffected parents: A case of gonadal mosaicism?"],"prefix":"10.1002","volume":"11","author":[{"given":"Katerina","family":"Slaba","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University Hospital Brno, Faculty of Medicine Masaryk University  Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Jezova","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospital Brno, Faculty of Medicine Masaryk University  Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Pokorna","sequence":"additional","affiliation":[{"name":"Central European Institute of Technology Masaryk University  Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Palova","sequence":"additional","affiliation":[{"name":"Central European Institute of Technology Masaryk University  Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Tuckova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Hospital Brno, Faculty of Medicine Masaryk University  Brno Czech 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