{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:32:16Z","timestamp":1760747536110,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,1,10]]},"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:p>Fetal hydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands in whom <jats:italic>de novo<\/jats:italic> heterozygous missense variants in the planar cell polarity gene <jats:italic>CELSR1<\/jats:italic> were detected using exome sequencing. Using several in vitro assays, we show that the <jats:italic>CELSR1<\/jats:italic> p.(Cys1318Tyr) variant disrupted the subcellular localisation, affected cell-cell junction, impaired planar cell polarity signalling and lowered proliferation rate. These observations suggest that deleterious rare <jats:italic>CELSR1<\/jats:italic> variants could be a possible cause of fetal hydrops.<\/jats:p>","DOI":"10.1136\/jmg-2023-109698","type":"journal-article","created":{"date-parts":[[2024,1,25]],"date-time":"2024-01-25T13:20:49Z","timestamp":1706188849000},"page":"549-552","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["De novo heterozygous missense variants in <i>CELSR1<\/i> as cause of fetal pleural effusions and progressive fetal hydrops"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0557-7530","authenticated-orcid":false,"given":"Maayke A","family":"de Koning","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula A","family":"Pimienta 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