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Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted reproductive technology among parents, and of disturbance of multiple imprinted loci, for which few causative\n                    <jats:italic>trans<\/jats:italic>\n                    -acting mutations have been found. Here we report mutations in\n                    <jats:italic>NLRP5<\/jats:italic>\n                    in five mothers of individuals affected by multilocus imprinting disturbance. Maternal-effect mutations of other human NLRP genes,\n                    <jats:italic>NLRP7<\/jats:italic>\n                    and\n                    <jats:italic>NLRP2<\/jats:italic>\n                    , cause familial biparental hydatidiform mole and multilocus imprinting disturbance, respectively. Offspring of mothers with\n                    <jats:italic>NLRP5<\/jats:italic>\n                    mutations have heterogenous clinical and epigenetic features, but cases include a discordant monozygotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by infertility and reproductive wastage.\n                    <jats:italic>NLRP5<\/jats:italic>\n                    mutations suggest connections between maternal reproductive fitness, early zygotic development and genomic imprinting.\n                  <\/jats:p>","DOI":"10.1038\/ncomms9086","type":"journal-article","created":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T06:04:22Z","timestamp":1441087462000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":163,"title":["Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans"],"prefix":"10.1038","volume":"6","author":[{"given":"Louise E.","family":"Docherty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faisal I.","family":"Rezwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca L.","family":"Poole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire L. 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