{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:25:51Z","timestamp":1787009151540,"version":"build-2736575974"},"reference-count":14,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2020,2,7]],"date-time":"2020-02-07T00:00:00Z","timestamp":1581033600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>MIRAGE syndrome is a multisystem disorder characterized by myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. Mutations in the sterile alpha motif domain containing 9 (SAMD9) gene which encodes a protein involved in growth factor signal transduction are thought to cause MIRAGE syndrome. SAMD9 mutations lead to an antiproliferative effect resulting in a multisystem growth restriction disorder. Though rare, a few patients with SAMD9 mutations were reported to have hydrocephalus and\/or cerebellar hypoplasia on imaging. The neuropathologic features of MIRAGE syndrome have not been previously described. Here, we describe the postmortem neuropathologic examinations of 2 patients with a clinical diagnosis of MIRAGE syndrome and confirmed SAMD9 mutations. Common features included microcephaly, hydrocephalus, white matter abnormalities, and perivascular calcifications. One of the 2 cases showed marked cerebellar hypoplasia with loss of Purkinje and granule neurons as well as multifocal polymicrogyria and severe white matter volume loss; similar findings were not observed in the second patient. These cases demonstrate the variation in neuropathologic findings in patients with MIRAGE syndrome. Interestingly, the findings are similar to those reported in ataxia-pancytopenia syndrome caused by mutations in SAMD9L, a paralogue of SAMD9.<\/jats:p>","DOI":"10.1093\/jnen\/nlaa009","type":"journal-article","created":{"date-parts":[[2020,2,27]],"date-time":"2020-02-27T11:21:22Z","timestamp":1582802482000},"page":"458-462","source":"Crossref","is-referenced-by-count":14,"title":["The Neuropathology of MIRAGE Syndrome"],"prefix":"10.1093","volume":"79","author":[{"given":"Angela N","family":"Viaene","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, The Children\u2019s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine , Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian N","family":"Harding","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, The Children\u2019s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine , Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,2,7]]},"reference":[{"key":"2024032523312751000_nlaa009-B1","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/ng.3569","article-title":"SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7","volume":"48","author":"Narumi","year":"2016","journal-title":"Nat Genet"},{"key":"2024032523312751000_nlaa009-B2","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1172\/JCI91913","article-title":"Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans","volume":"127","author":"Buonocore","year":"2017","journal-title":"J Clin Invest"},{"key":"2024032523312751000_nlaa009-B3","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1002\/ajmg.a.38557","article-title":"A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history","volume":"176","author":"Jeffries","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2024032523312751000_nlaa009-B4","doi-asserted-by":"crossref","first-page":"e0206184","DOI":"10.1371\/journal.pone.0206184","article-title":"MIRAGE syndrome is a rare cause of 46, XY DSD born SGA without adrenal insufficiency","volume":"13","author":"Shima","year":"2018","journal-title":"PLoS One"},{"key":"2024032523312751000_nlaa009-B5","doi-asserted-by":"crossref","first-page":"1827","DOI":"10.1038\/leu.2017.142","article-title":"Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome","volume":"31","author":"Schwartz","year":"2017","journal-title":"Leukemia"},{"key":"2024032523312751000_nlaa009-B6","doi-asserted-by":"crossref","first-page":"e121086","DOI":"10.1172\/jci.insight.121086","article-title":"Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes","volume":"3","author":"Wong","year":"2018","journal-title":"JCI Insight"},{"key":"2024032523312751000_nlaa009-B7","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1182\/blood-2016-10-743302","article-title":"Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms","volume":"129","author":"Tesi","year":"2017","journal-title":"Blood"},{"key":"2024032523312751000_nlaa009-B8","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1038\/s41375-018-0074-4","article-title":"SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies","volume":"32","author":"Davidsson","year":"2018","journal-title":"Leukemia"},{"key":"2024032523312751000_nlaa009-B9","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1016\/0002-9343(78)90744-1","article-title":"A family with acute leukemia, hypoplastic anemia and cerebellar ataxia: Association with bone marrow C-monosomy","volume":"65","author":"Li","year":"1978","journal-title":"Am J Med"},{"key":"2024032523312751000_nlaa009-B10","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0165-4608(81)90013-3","article-title":"Ataxia-pancytopenia: Syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia","volume":"4","author":"Li","year":"1981","journal-title":"Cancer Genet Cytogenet"},{"key":"2024032523312751000_nlaa009-B11","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.ajhg.2016.04.009","article-title":"Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L","volume":"98","author":"Chen","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2024032523312751000_nlaa009-B12","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1182\/bloodadvances.2017012682","article-title":"Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype","volume":"2","author":"Sarthy","year":"2018","journal-title":"Blood Adv"},{"key":"2024032523312751000_nlaa009-B13","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.ccr.2013.08.011","article-title":"Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7","volume":"24","author":"Nagamachi","year":"2013","journal-title":"Cancer Cell"},{"key":"2024032523312751000_nlaa009-B14","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1086\/508069","article-title":"A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis","volume":"79","author":"Topaz","year":"2006","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Neuropathology &amp; Experimental 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