{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:49:33Z","timestamp":1747151373026,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T00:00:00Z","timestamp":1693180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18\u00a0weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss\u2010of\u2010function heterozygous variant in the <jats:italic>SMARCC1<\/jats:italic> gene inherited from an unaffected mother. The <jats:italic>SMARCC1<\/jats:italic> gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the <jats:italic>SMARCC1<\/jats:italic> OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, <jats:italic>SMARCC1<\/jats:italic> is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as <jats:italic>likely pathogenic<\/jats:italic> and empowered the couple to make informed reproductive choices.<\/jats:p>","DOI":"10.1002\/pd.6426","type":"journal-article","created":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T15:40:51Z","timestamp":1693237251000},"page":"1374-1377","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>SMARCC1<\/i> is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance"],"prefix":"10.1002","volume":"43","author":[{"given":"Noa","family":"Hourvitz","sequence":"first","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7005-3621","authenticated-orcid":false,"given":"Alina","family":"Kurolap","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adi","family":"Mory","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9868-3548","authenticated-orcid":false,"given":"Karina Krajden","family":"Haratz","sequence":"additional","affiliation":[{"name":"Division of Ultrasound in Obstetrics and Gynecology Lis Maternity and Hospital for Women's Health Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dvora","family":"Kidron","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"},{"name":"Department of Pathology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0864-206X","authenticated-orcid":false,"given":"Gustavo","family":"Malinger","sequence":"additional","affiliation":[{"name":"Division of Ultrasound in Obstetrics and Gynecology Lis Maternity and Hospital for Women's Health Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hagit","family":"Baris Feldman","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8622-7668","authenticated-orcid":false,"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[{"name":"The Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,28]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_10_2_1","DOI":"10.1002\/uog.24885"},{"doi-asserted-by":"publisher","key":"e_1_2_10_3_1","DOI":"10.1016\/j.neuron.2018.06.019"},{"doi-asserted-by":"publisher","key":"e_1_2_10_4_1","DOI":"10.1038\/s41591\u2010020\u20101090\u20102"},{"doi-asserted-by":"publisher","key":"e_1_2_10_5_1","DOI":"10.1002\/dneu.22142"},{"doi-asserted-by":"publisher","key":"e_1_2_10_6_1","DOI":"10.1002\/ana.25152"},{"volume-title":"Hydrocephalus, Congenital, 5, Susceptibility to; HYC5","year":"2023","key":"e_1_2_10_7_1"},{"doi-asserted-by":"publisher","key":"e_1_2_10_8_1","DOI":"10.1016\/j.ejmg.2023.104797"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6426","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T06:19:55Z","timestamp":1694585995000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,28]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/pd.6426"],"URL":"https:\/\/doi.org\/10.1002\/pd.6426","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2023,8,28]]},"assertion":[{"value":"2023-06-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}