{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T14:23:38Z","timestamp":1773066218103,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008376","name":"Helsingin ja Uudenmaan Sairaanhoitopiiri","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008376","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initially referred to the Fetomaternal Medical Center because of suspected fetal choroid plexus cyst at 11\u00a0+\u00a02\u00a0weeks of pregnancy. At 20\u00a0+\u00a00\u00a0weeks, multiple abnormalities were observed with ultrasound including narrow thorax, slightly enlarged heart, hypoplastic cerebellum, absent cerebellar vermis and ventriculomegaly. Autopsy and genetic analyses were performed after the termination of pregnancy. The findings of macroscopic examination included cleft palate, abnormally overlapping position of fingers and toes and dysmorphic facial features. Neuropathological examination confirmed the absence of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Nodular neuronal heterotopia was also observed. Trio exome sequencing revealed a novel hemizygous de novo variant c.1144C&gt;T p.(Gln382*) in the PDHA1 gene, classified as likely pathogenic. We suggest that inherited metabolic disorders should be kept in mind as differential diagnoses in fetuses with structural brain abnormalities.<\/jats:p>","DOI":"10.1002\/pd.6349","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T23:07:50Z","timestamp":1683760070000},"page":"730-733","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["X\u2010linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4451-2238","authenticated-orcid":false,"given":"Laura M.","family":"Tanner","sequence":"first","affiliation":[{"name":"Division of Genetics and Clinical Pharmacology Department of Clinical Genetics HUS Diagnostic Center  Helsinki Finland"},{"name":"Fetomaternal Medical Center Helsinki University Hospital  Helsinki Finland"},{"name":"Department of Medical and Clinical Genetics University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olli","family":"Tynninen","sequence":"additional","affiliation":[{"name":"Department of Pathology Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsi","family":"Piippo","sequence":"additional","affiliation":[{"name":"Division of Genetics and Clinical Pharmacology Laboratory of Genetics HUS Diagnostic Center  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antti M.","family":"Puhakka","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Helsinki University Hospital and University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,16]]},"reference":[{"key":"e_1_2_11_2_1","volume-title":"GeneReviews\u00ae[Internet]","author":"Ganetzky R","year":"2021"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469\u20108749.2009.03541.x"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.09.001"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.08.008"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2021.02.007"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlv022"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247\u2010016\u20103585\u2010z"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.187"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.a7131"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.26046"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001586\u20103"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.03.017"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6349","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T07:05:48Z","timestamp":1704870348000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6349"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,16]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/pd.6349"],"URL":"https:\/\/doi.org\/10.1002\/pd.6349","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,16]]},"assertion":[{"value":"2023-01-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}