{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T12:46:59Z","timestamp":1775134019944,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,1,22]],"date-time":"2020-01-22T00:00:00Z","timestamp":1579651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Conseil r\u00e9gional de Bourgogne-Franche-Comt\u00e9","doi-asserted-by":"publisher","award":["plan d'actions r\u00e9gional pour l'innovation (PARI)"],"award-info":[{"award-number":["plan d'actions r\u00e9gional pour l'innovation (PARI)"]}],"id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["PO FEDER\u2010FSE Bourgogne 2014\/2020 programs"],"award-info":[{"award-number":["PO FEDER\u2010FSE Bourgogne 2014\/2020 programs"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,3]]},"abstract":"Abstract<\/jats:title>PRDM16<\/jats:italic> (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics<\/jats:italic>, 2010, 152A, 3074\u20133083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non\u2010compaction (LVNC) with a PRDM16<\/jats:italic> variant. The third\u2010trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly. Endocardial fibroelastosis was associated with non\u2010compaction of the myocardium of the left ventricle. Exome sequencing (ES) identified a de novo unreported p.(Gln353*) heterozygous nonsense variant in PRDM16<\/jats:italic>. ES also identified two rare variants of unknown significance, according to the American College of Medical Genetics and Genomics guidelines, in the titin gene (TTN<\/jats:italic>): a de novo missense p.(Lys14773Asn) variant and a c.33043+5A>G variant inherited from the mother. Along with the PRDM16<\/jats:italic> de novo probably pathogenic variant, TTN<\/jats:italic> VOUS variants could possibly contribute to the severity and early onset of the cardiac phenotype. Because of the genetic heterogeneity of cardiomyopathies, large panels or even ES could be considered as the main approaches for the molecular diagnosis, particularly in fetal presentations, where multiple hits seem to be common.<\/jats:p>","DOI":"10.1002\/ajmg.c.31766","type":"journal-article","created":{"date-parts":[[2020,1,22]],"date-time":"2020-01-22T08:20:21Z","timestamp":1579681221000},"page":"129-135","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Cardiomyopathy due to PRDM16<\/i> mutation: First description of a fetal presentation, with possible modifier genes"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9189-6847","authenticated-orcid":false,"given":"Geoffroy","family":"Delplancq","sequence":"first","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre 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