{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T01:02:16Z","timestamp":1768006936375,"version":"3.49.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T00:00:00Z","timestamp":1736121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109301s2201"],"award-info":[{"award-number":["18ek0109301s2201"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the\n                    <jats:italic>UBA1<\/jats:italic>\n                    gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, lung cancer in never smokers (LCINS), and X-linked spinal muscular atrophy (XL-SMA, SMAX2). We here report a case of infantile respiratory distress syndrome followed by continuing neuromuscular symptoms. We identified a de novo hemizygous mutation, c.1660\u2009C\u2009&gt;\u2009T (p.Pro554Ser), in exon 15 of the\n                    <jats:italic>UBA1<\/jats:italic>\n                    gene in this baby. This missense mutation was located with the AAD (active adenylation domain) of the protein, a known hotspot of SMAX2 mutations. This case lends support to the genotype-phenotype correlation regarding the\n                    <jats:italic>UBA1<\/jats:italic>\n                    mutation and its related diseases.\n                  <\/jats:p>","DOI":"10.1038\/s41439-024-00307-7","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T03:39:38Z","timestamp":1736134778000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome"],"prefix":"10.1038","volume":"12","author":[{"given":"Masafumi","family":"Miyata","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arisa","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuri","family":"Kawai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Boda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoko","family":"Ishihara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2383-0619","authenticated-orcid":false,"given":"Hidehito","family":"Inagaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsushi","family":"Yoshikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5690-5218","authenticated-orcid":false,"given":"Hiroki","family":"Kurahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,6]]},"reference":[{"key":"307_CR1","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1016\/j.ajhg.2007.09.009","volume":"2","author":"J Ramser","year":"2008","unstructured":"Ramser, J. et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am. J. Hum. Genet. 2, 188\u2013193 (2008).","journal-title":"Am. J. Hum. Genet."},{"key":"307_CR2","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","volume":"383","author":"DB Beck","year":"2020","unstructured":"Beck, D. B. et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N. Engl. J. Med. 383, 2628\u20132638 (2020).","journal-title":"N. Engl. J. Med."},{"key":"307_CR3","doi-asserted-by":"publisher","first-page":"1348","DOI":"10.1038\/s41588-021-00920-0","volume":"53","author":"T Zhang","year":"2021","unstructured":"Zhang, T. et al. Genomic and evolutionary classification of lung cancer in never smokers. Nat. Genet. 53, 1348\u20131359 (2021).","journal-title":"Nat. Genet."},{"key":"307_CR4","doi-asserted-by":"publisher","first-page":"1919","DOI":"10.1038\/s44318-024-00046-z","volume":"43","author":"JC Collins","year":"2024","unstructured":"Collins, J. C. et al. Shared and distinct mechanisms of UBA1 inactivation across different diseases. EMBO J. 43, 1919\u20131946 (2024).","journal-title":"EMBO J."},{"key":"307_CR5","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/j.nmd.2013.02.001","volume":"23","author":"N Dlamini","year":"2013","unstructured":"Dlamini, N. et al. Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Neuromuscul. Disord. 23, 391\u2013398 (2013).","journal-title":"Neuromuscul. Disord."},{"key":"307_CR6","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1016\/j.nmd.2015.05.001","volume":"25","author":"M J\u0119drzejowska","year":"2015","unstructured":"J\u0119drzejowska, M., Jakubowska-Pietkiewicz, E. & Kostera-Pruszczyk, A. X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene. Neuromuscul. Disord. 25, 661\u2013666 (2015).","journal-title":"Neuromuscul. Disord."},{"key":"307_CR7","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.nmd.2019.11.004","volume":"30","author":"N Shaughnessy","year":"2020","unstructured":"Shaughnessy, N., Forman, E. B., O\u2019Rourke, D., Lynch, S. A. & Lynch, B. X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. Neuromuscul. Disord. 30, 35\u201337 (2020).","journal-title":"Neuromuscul. Disord."},{"key":"307_CR8","doi-asserted-by":"publisher","first-page":"64","DOI":"10.3389\/fped.2020.00064","volume":"8","author":"XH Wang","year":"2020","unstructured":"Wang, X. H., Zhang, L. M., Yang, X. & Zhou, S. Z. A pathogenic missense variant (c.1617G>A, p.Met539Ile) in UBA1 causing infantile X-linked spinal muscular atrophy (SMAX2). Front. Pediatr. 8, 64 (2020).","journal-title":"Front. Pediatr."},{"key":"307_CR9","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1159\/000519640","volume":"13","author":"\u00d6 \u00d6zt\u00fcrk","year":"2022","unstructured":"\u00d6zt\u00fcrk, \u00d6., \u00c7avdartepe, B. E. & Ba\u011f\u0131\u015f, H. X-linked spinal muscular atrophy 2 due to a synonymous variant in the UBA1 gene in a family with novel findings from Turkey. Mol. Syndromol. 13, 246\u2013253 (2022).","journal-title":"Mol. Syndromol."},{"key":"307_CR10","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1038\/81701","volume":"26","author":"P Bomont","year":"2000","unstructured":"Bomont, P. et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB\/kelch repeat family, is mutated in giant axonal neuropathy. Nat. Genet. 26, 370\u2013374 (2000).","journal-title":"Nat. Genet."},{"key":"307_CR11","doi-asserted-by":"publisher","first-page":"1636","DOI":"10.12688\/f1000research.11878.1","volume":"6","author":"CD Balak","year":"2017","unstructured":"Balak, C. D. et al. Functional characterizations of rare UBA1 variants in X-linked spinal muscular atrophy. F1000Res 6, 1636 (2017).","journal-title":"F1000Res"},{"key":"307_CR12","unstructured":"Baumbach-Reardon, L. et al. (editors). GeneReviews\u00ae [Internet]. (University of Washington, Seattle (WA), 2008)."}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00307-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00307-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00307-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:01:43Z","timestamp":1767981703000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41439-024-00307-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,6]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["307"],"URL":"https:\/\/doi.org\/10.1038\/s41439-024-00307-7","relation":{},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,6]]},"assertion":[{"value":"5 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 November 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 January 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"2"}}