{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T12:10:40Z","timestamp":1785499840705,"version":"3.56.0"},"reference-count":33,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:p>Maternal floor infarction\/massive perivillous fibrin deposition (MFI\/MPVFD) of the placenta has an unclear etiology. The placenta of an 8-month-old child diagnosed with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency reportedly showed MFI, but no further evidence of a direct association between MFI\/MPVFD and LCHAD deficiency has been documented. Three cases of MFI\/MPVFD were studied. Paraffin blocks of placental tissue were retrieved, tissue scrolls were harvested, and DNA was extracted. The alpha-subunit of the mitochondrial trifunctional protein containing the LCHAD coding region (HADHA) was subsequently amplified using specific primer sets and directly sequenced by the dideoxy chain termination method. All 3 placentas demonstrated heterozygous mutations in the HADHA gene. A sample from a 25-4\/7 week gestation growth-restricted female infant revealed a heterozygous mutation in exon 11, 1072C&gt;A (glutamine to lysine, Qln358Lys) with a heterozygous sequence difference in the intron following exon 6 (insertion of a T at position +9, +9insT). The 2nd sample from a 32-4\/7 week gestation stillborn fetus revealed a heterozygous mutation (+3A&gt;G after exon 3) and a clear homozygous sequence difference in exon 17. The 3rd sample from a 31 weeks gestation infant revealed heterozygosity for the+3A&gt;G mutation after exon 3. All 3 placentas with MFI\/MPVFD demonstrated heterozygous mutations in the HADHA gene, and 2 of the 3 placentas had 2 DNA changes. Given a background incidence of heterozygosity for LCHAD mutations of approximately 1 in 220, these findings lend support to the hypothesis that LCHAD mutations may be directly associated with and potentially causative of MFI\/MPVFD.<\/jats:p>","DOI":"10.2350\/12-05-1198-oa.1","type":"journal-article","created":{"date-parts":[[2012,7,2]],"date-time":"2012-07-02T15:41:37Z","timestamp":1341243697000},"page":"368-374","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":27,"title":["Mutations in Long-Chain 3-Hydroxyacyl Coenzyme a Dehydrogenase are Associated with Placental Maternal Floor Infarction\/Massive Perivillous Fibrin Deposition"],"prefix":"10.1177","volume":"15","author":[{"given":"Adrienne Carruth","family":"Griffin","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold W.","family":"Strauss","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Bennett","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda M.","family":"Ernst","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"},{"name":"Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,9,1]]},"reference":[{"key":"bibr1-12-05-1198-OA.1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-001-0195-y"},{"key":"bibr2-12-05-1198-OA.1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7210685"},{"key":"bibr3-12-05-1198-OA.1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(90)91100-Q"},{"key":"bibr4-12-05-1198-OA.1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(83)91130-4"},{"key":"bibr5-12-05-1198-OA.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(03)00288-0"},{"key":"bibr6-12-05-1198-OA.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(85)80254-9"},{"key":"bibr7-12-05-1198-OA.1","first-page":"1270","volume":"142","author":"Nickel RE","year":"1988","journal-title":"Am J Dis 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