{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T11:12:00Z","timestamp":1776424320582,"version":"3.51.2"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":106,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2023A1515140149"],"award-info":[{"award-number":["2023A1515140149"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>MIRAGE syndrome is an autosomal\u2010dominant genetic disease primarily caused by a de novo mutation in the gene SAMD9 gene. This study is aimed at investigating the pathogenesis of MIRAGE syndrome through a Chinese case exhibiting intrauterine growth retardation and renal hypoplasia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We performed clinical exome sequencing to identify the pathogenic loci in the family. Further functional studies were conducted to understand the impact of the identified mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We identified a de novo mutation in SAMD9 that causes MIRAGE syndrome: c.2423A&gt;G p.(Tyr808Cys). This mutation was associated with a novel phenotypic combination of intrauterine growth retardation and renal hypoplasia in a fetus. In vitro functional experiments demonstrated that the SAMD9 mutation reduced its levels of mRNA and protein.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study expands the pathogenic mutation spectrum of MIRAGE syndrome and provides new insights into its pathogenic mechanism. The identified mutation in SAMD9 provides a potential target for understanding and treating this complex disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/humu\/9470286","type":"journal-article","created":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T10:13:49Z","timestamp":1776420829000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A De Novo Mutation (c.2423A&gt;G) in\n                    <i>SAMD9<\/i>\n                    Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9327-8914","authenticated-orcid":false,"given":"Yuxin","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiahui","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongzhi","family":"Gan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2428-6165","authenticated-orcid":false,"given":"Fu","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3624-0156","authenticated-orcid":false,"given":"Honglei","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6224-1800","authenticated-orcid":false,"given":"Fang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-017-4341-9"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2020.05.010"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.placenta.2020.05.003"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2275"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0206184"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38557"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlaa009"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.953707"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2019.2019.0053"},{"key":"e_1_2_13_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2019.08.008"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3569"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-021-01511-6"},{"key":"e_1_2_13_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2019.07.007"},{"key":"e_1_2_13_14_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI91913"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14109"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.121086"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2019.00625"},{"key":"e_1_2_13_18_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.283.5403.833"},{"key":"e_1_2_13_19_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-8-92"},{"key":"e_1_2_13_20_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022017717"},{"key":"e_1_2_13_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.387"},{"key":"e_1_2_13_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.27726"},{"key":"e_1_2_13_23_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1005091"},{"key":"e_1_2_13_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.04.013"},{"key":"e_1_2_13_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2019.03.009"},{"key":"e_1_2_13_26_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2116550119"},{"key":"e_1_2_13_27_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-10-743302"},{"key":"e_1_2_13_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.04.009"},{"key":"e_1_2_13_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-018-0074-4"},{"key":"e_1_2_13_30_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-13-121"}],"container-title":["Human 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