{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:51:49Z","timestamp":1790985109354,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T00:00:00Z","timestamp":1717113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 19\u2010year\u2010old gravida underwent genetic counseling at the 26th week of gestation due to sonographically detected fetal anomalies, including Dandy\u2013Walker malformation, characterized by cerebellar vermis hypoplasia and an enlarged cisterna magna, and single ventricle heart. Following amniocentesis at the 27th week, after the normal quantitative fluorescence polymerase chain reaction and chromosomal microarray\u00a0results, trio clinical exome sequencing was performed, revealing a novel homozygous pathogenic variant in the <jats:italic>MPDZ<\/jats:italic> gene, c.4576G&gt;T (NM_001378778.1). So far, homozygous and compound heterozygous variants in <jats:italic>MPDZ<\/jats:italic> have been strongly linked to congenital hydrocephalus type 2 with or without accompanying brain or eye anomalies. The reported variant, absent in control databases, resulted in premature termination of protein synthesis, consistent with pathogenicity predictions. Both parents were identified as heterozygous carriers. Pregnancy termination was chosen post\u2010diagnosis. Postmortem findings correlated with prenatal ultrasound. Our case broadens the prenatal phenotypic spectrum associated with <jats:italic>MPDZ<\/jats:italic> variants, necessitating further studies for comprehensive understanding of molecular mechanisms beneath the clinical manifestations.<\/jats:p>","DOI":"10.1002\/pd.6614","type":"journal-article","created":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T10:35:45Z","timestamp":1717151745000},"page":"1008-1011","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the phenotypic spectrum of <i>MPDZ<\/i> gene variants: A case report with prenatally detected Dandy\u2013Walker malformation and single ventricle heart"],"prefix":"10.1002","volume":"44","author":[{"given":"An\u0111ela","family":"Stankovi\u0107","sequence":"first","affiliation":[{"name":"Gynecology and Obstetrics Clinic Narodni front  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mina","family":"Tolji\u0107","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic Narodni front  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nata\u0161a Karad\u017eov","family":"Orli\u0107","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic Narodni front  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u017deljko","family":"Mikovi\u0107","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic Narodni front  Belgrade Serbia"},{"name":"School of Medicine University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8890-0569","authenticated-orcid":false,"given":"Ivana","family":"Joksi\u0107","sequence":"additional","affiliation":[{"name":"Gynecology and Obstetrics Clinic Narodni front  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478\u2010017\u20100438\u20104"},{"key":"e_1_2_7_3_1","volume-title":"Multiple PDZ Domain Crumbs Cell Polarity Complex Component","author":"Online Mendelian Inheritance in Man","year":"2018"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010101294"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24964"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20236020"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T02:38:28Z","timestamp":1720060708000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,31]]},"references-count":5,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/pd.6614"],"URL":"https:\/\/doi.org\/10.1002\/pd.6614","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,31]]},"assertion":[{"value":"2024-04-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}