{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:40Z","timestamp":1783012660670,"version":"3.54.6"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T00:00:00Z","timestamp":1774137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T00:00:00Z","timestamp":1774137600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FIS PI20\/01053"],"award-info":[{"award-number":["FIS PI20\/01053"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PMP21\/00063"],"award-info":[{"award-number":["PMP21\/00063"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PMP22\/00049"],"award-info":[{"award-number":["PMP22\/00049"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a 5\u2010year\u2010old Spanish male with a homozygous\n                    <jats:italic>SPOUT1<\/jats:italic>\n                    variant (NM_016390.4:c.1058C&gt;T; p.Thr353Met), identified by re\u2010analysis of whole\u2010genome sequencing. His phenotype includes severe developmental delay, microcephaly, epilepsy evolving to Lennox\u2013Gastaut\u2010like syndrome, growth impairment, dysmorphic features, and multiple congenital anomalies. Our case expands the\n                    <jats:italic>SPOUT1<\/jats:italic>\n                    \u2010related neurodevelopmental spectrum and underscores the diagnostic value of periodic genomic data re\u2010analysis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70126","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T05:34:48Z","timestamp":1774244088000},"page":"1929-1933","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A New Patient With\n                    <scp>SPOUT1<\/scp>\n                    \u2010Related Neurodevelopmental Disorder Identified by Genomic Data Re\u2010Analysis: Novel Phenotypic Features and Literature Review"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1533-404X","authenticated-orcid":false,"given":"Tom\u00e1s","family":"Valle","sequence":"first","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Dami\u00e1n","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Torres","sequence":"additional","affiliation":[{"name":"Pediatrics Department Hospital Materno\u2010Infantil  Badajoz Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Pediatrics Department Hospital Materno\u2010Infantil  Badajoz 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Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Rodr\u00edguez\u2010Can\u00f3","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Gallego\u2010Zazo","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"V\u00e1squez\u2010Amell","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc\u00eda","family":"Miranda Alcaraz","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Mora\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"ITHACA Network, European Reference Netwotk for Rare Diseases  Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor L.","family":"Ruiz P\u00e9rez","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Network Research on Rare Diseases, ISCIII  Madrid Spain"},{"name":"Instituto de G\u00e9netica M\u00e9dica y Molecular (INGEMM\u2010IdiPAZ), Hospital Universitario La Paz  Madrid Spain"},{"name":"Instituto de Investigaciones Biomedicas Sols\u2010Morreale (IIBM), CSIC\u2010UAM  Madrid 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.013"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.adr1743"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","unstructured":"Dharmadhikari A. 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A.Abad S.Khan et\u00a0al.2024.\u201cRNA Methyltransferase SPOUT1\/CENP\u201032 Links Mitotic Spindle Organization With the Neurodevelopmental Disorder SpADMiSS.\u201dmedRxiv. 2024.01.09.23300329.https:\/\/doi.org\/10.1101\/2024.01.09.23300329.","DOI":"10.1101\/2024.01.09.23300329"},{"key":"e_1_2_4_4_2","unstructured":"Update in Nat Commun. 2025 Feb 17;16(1):1703.https:\/\/doi.org\/10.1038\/s41467\u2010025\u201056876\u2010w."},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010025\u201056876\u2010w"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s42494\u2010024\u201000185\u20100"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E14\u201009\u20101366"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2017.0088"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70126","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70126","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:29:11Z","timestamp":1783009751000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,22]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ajmg.a.70126"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70126","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,22]]},"assertion":[{"value":"2025-09-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}