{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:21:56Z","timestamp":1792794116227,"version":"4.5.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T00:00:00Z","timestamp":1766793600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Lalor Foundation Postdoctoral Fellowship","award":["T32GM07526"],"award-info":[{"award-number":["T32GM07526"]}],"id":[{"id":"https:\/\/ror.org\/03vpdge44","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Lalor Foundation Postdoctoral Fellowship","award":["T32HD098068"],"award-info":[{"award-number":["T32HD098068"]}],"id":[{"id":"https:\/\/ror.org\/03vpdge44","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Lalor Foundation Postdoctoral Fellowship","award":["R01HD092746"],"award-info":[{"award-number":["R01HD092746"]}],"id":[{"id":"https:\/\/ror.org\/03vpdge44","id-type":"ROR","asserted-by":"crossref"}]},{"name":"The Baylor College of Medicine Intellectual and Developmental Disabilities Research Center","award":["P50HD103555"],"award-info":[{"award-number":["P50HD103555"]}],"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Research Vision and the Duncan Neurological Research Institute at Texas Children\u2019s Hospital","id":[{"id":"https:\/\/ror.org\/05cz92x43","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Maternal effect genes (MEGs) play a crucial role in early mammalian development, and their dysfunction can lead to severe embryonic and extra-embryonic abnormalities. NLRP2, a MEG that encodes a subcortical maternal complex protein, has been implicated in preimplantation development, but its role after implantation remains underexplored. In this study, we investigated the developmental consequences of maternal Nlrp2 loss-of-function in a maternal knockout (KO) mouse model at embryonic day 11.5. Embryos derived from Nlrp2-KO females have abnormal yolk sac vasculature, increased embryonic resorption, craniofacial abnormalities, neural tube defects, and congenital heart defects. Placental architecture is disrupted with an altered junctional zone and labyrinth structure. Transcriptome profiling of maternal decidua and placenta demonstrated dysregulation of genes involved in trophoblast differentiation and extra-embryonic development. Bisulfite sequencing of these tissues revealed persistence at E11.5 of previously observed locus-specific disruption in DNA methylation at four imprinted loci following maternal Nlrp2 loss. We further describe pregnancy outcomes and offspring phenotypes for two unrelated women with bi-allelic maternal NLRP2 variants. The first carried homozygous NLRP2 nonsense variants and experienced recurrent pregnancy loss and fetuses with multiple structural anomalies, including omphalocele, craniofacial dysmorphism, and cardiac defects. The second carried compound heterozygous frameshift and missense NLRP2 variants and had a child with neurodevelopmental impairment of uncertain etiology. These findings indicate a conserved role for maternal NLRP2 in embryonic viability and placental development, and support further studies in humans into the contribution of NLRP2 and other similar MEGs to offspring congenital anomalies and adverse pregnancy outcomes.<\/jats:p>","DOI":"10.1093\/biolre\/ioaf290","type":"journal-article","created":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T12:46:36Z","timestamp":1766666796000},"page":"1469-1485","source":"Crossref","is-referenced-by-count":3,"title":["Loss of the maternal effect gene\n                    <i>NLRP2<\/i>\n                    impairs embryonic and extra-embryonic development, revealing a novel genetic cause of congenital anomalies"],"prefix":"10.1093","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8876-9946","authenticated-orcid":false,"given":"Momal","family":"Sharif","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Baylor College of Medicine , Houston, TX ,","place":["USA"]},{"name":"Duncan Neurological Research Institute at Texas Children\u2019s Hospital , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5990-0068","authenticated-orcid":false,"given":"Zahra","family":"Anvar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Baylor College of Medicine , Houston, TX ,","place":["USA"]},{"name":"Duncan Neurological Research Institute at Texas Children\u2019s Hospital , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7748-9260","authenticated-orcid":false,"given":"Imen","family":"Chakchouk","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Baylor College of Medicine , Houston, TX ,","place":["USA"]},{"name":"Duncan Neurological Research Institute at Texas Children\u2019s Hospital , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1967-7532","authenticated-orcid":false,"given":"Sara H","family":"El-Dessouky","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis & Fetal Medicine Department, National Research Centre , Cairo ,","place":["Egypt"]},{"name":"Department of Prenatal Diagnosis and Fetal Medicine, Human Genetics and Genome Research Institute, National Research Centre , Cairo ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7746-3594","authenticated-orcid":false,"given":"Roni","family":"Zemet","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Baylor College of Medicine , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric C","family":"Kao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX ,","place":["USA"]},{"name":"Baylor Genetics Laboratories , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4728-9089","authenticated-orcid":false,"given":"Wessam E","family":"Sharaf-Eldin","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis and Fetal Medicine, Human Genetics and Genome Research Institute, National Research Centre , Cairo ,","place":["Egypt"]},{"name":"Medical & Molecular Genetics Department, National Research Centre , Cairo ,","place":["Egypt"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4354-7482","authenticated-orcid":false,"given":"Ying-Wooi","family":"Wan","sequence":"additional","affiliation":[{"name":"Duncan Neurological Research Institute at Texas Children\u2019s Hospital , Houston, TX ,","place":["USA"]},{"name":"Department of Pediatrics-Neurology, Baylor College of Medicine , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5310-8272","authenticated-orcid":false,"given":"Zhandong","family":"Liu","sequence":"additional","affiliation":[{"name":"Duncan Neurological Research Institute at Texas Children\u2019s Hospital , Houston, TX ,","place":["USA"]},{"name":"Department of Pediatrics-Neurology, Baylor College of Medicine , Houston, TX ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0119-5463","authenticated-orcid":false,"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX ,","place":["USA"]},{"name":"Baylor Genetics Laboratories , Houston, TX 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