{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:25:34Z","timestamp":1791300334908,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,9]],"date-time":"2019-03-09T00:00:00Z","timestamp":1552089600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007821","name":"Tartu \u00dclikool","doi-asserted-by":"publisher","award":["PUT355"],"award-info":[{"award-number":["PUT355"]}],"id":[{"id":"10.13039\/501100007821","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007821","name":"Tartu \u00dclikool","doi-asserted-by":"publisher","award":["PRG471"],"award-info":[{"award-number":["PRG471"]}],"id":[{"id":"10.13039\/501100007821","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Meckel\u2013Gruber syndrome (MKS) is a well\u2010known rare disease that can be detected on prenatal ultrasound. Meckel\u2013Gruber syndrome has very heterogeneous etiology; at least, 17 genes have been described in association with MKS. The characteristic findings in fetuses affected by MKS are encephalocele (usually occipital), postaxial polydactyly, and polycystic dysplastic kidneys. However, the association of the <jats:italic>TXNDC15<\/jats:italic> gene with MKS has been reported only once before in three consanguineous families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a new case of MKS diagnosed at 12\u00a0+\u00a01\u00a0weeks of gestation with typical ultrasound findings, but with novel compound heterozygous pathogenic variants in the <jats:italic>TXNDC15<\/jats:italic> gene identified by whole\u2010exome sequencing\u00a0(WES).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This is the second clinical report supporting <jats:italic>TXNDC15<\/jats:italic> as a novel causative gene of MKS, and the first describing a case in a non\u2010consanguineous family with causative compound heterozygous mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Meckel\u2013Gruber syndrome is a very heterogeneous syndrome in terms of the associated causal genes. In the first\u2010line diagnosis, we used an next\u2010generation sequencing (NGS)\u2010based large gene panel, but only 10 MKS genes were available on the platform used. In the case of prenatal ultrasound findings that are highly suggestive of MKS and a negative NGS MKS gene panel, WES should also be performed to not miss rare gene associations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.614","type":"journal-article","created":{"date-parts":[[2019,3,9]],"date-time":"2019-03-09T11:34:06Z","timestamp":1552131246000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A prenatally diagnosed case of Meckel\u2013Gruber syndrome with novel compound heterozygous pathogenic variants in the <i>TXNDC15<\/i> gene"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1088-5936","authenticated-orcid":false,"given":"Konstantin","family":"Ridn\u00f5i","sequence":"first","affiliation":[{"name":"Centre for Perinatal Care Women's Clinic, East\u2010Tallinn Central Hospital Tallinn Estonia"},{"name":"Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"\u0160ois","sequence":"additional","affiliation":[{"name":"Fetal Ultrasound Screening Centre Tallinn Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve","family":"Vaidla","sequence":"additional","affiliation":[{"name":"United Laboratories Department of Clinical Genetics Tartu University Hospital Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5435-0781","authenticated-orcid":false,"given":"Sander","family":"Pajusalu","sequence":"additional","affiliation":[{"name":"United Laboratories Department of Clinical Genetics Tartu University Hospital Tartu Estonia"},{"name":"Department of Genetics Yale University School of Medicine New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa","family":"Kelder","sequence":"additional","affiliation":[{"name":"Centre of Pathology Diagnostic Clinic, East\u2010Tallinn Central Hospital Tallinn Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiia","family":"Reimand","sequence":"additional","affiliation":[{"name":"United Laboratories Department of Clinical Genetics Tartu University Hospital Tartu Estonia"},{"name":"Department of Biomedicine Institute of Biomedicine and Translational Medicine, University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4594-6364","authenticated-orcid":false,"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Institute of Clinical Medicine, University of Tartu Tartu Estonia"},{"name":"United Laboratories Department of Clinical Genetics Tartu University Hospital Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,9]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2015.1072162"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00880.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.174"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0054-7"},{"key":"e_1_2_7_6_1","volume-title":"Potter's pathology of the fetus, infant and child","author":"Enid Gilbert\u2010Barness R. 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