{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:50:44Z","timestamp":1787241044497,"version":"build-2736575974"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2024,3,23]],"date-time":"2024-03-23T00:00:00Z","timestamp":1711152000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["ZR2021LSW010"],"award-info":[{"award-number":["ZR2021LSW010"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Postdoctoral Funding","award":["2022M721954"],"award-info":[{"award-number":["2022M721954"]}]},{"name":"Science and Technology Development Program of Jinan Municipal Health Commission","award":["2021-2-105"],"award-info":[{"award-number":["2021-2-105"]}]},{"name":"Jinan Clinical Medical Science and Technology Innovation Project","award":["202328015"],"award-info":[{"award-number":["202328015"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spinal muscular atrophy (SMA), which results from the deletion or\/and mutation in the SMN1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. SMN2 is a paralogous gene of SMN1. SMN2 copy number affects the severity of SMA, but its role in patients treated with disease modifying therapies is unclear. The most appropriate individualized treatment for SMA has not yet been determined. Here, we reported a case of SMA type I with normal breathing and swallowing function. We genetically confirmed that this patient had a compound heterozygous variant: one deleted SMN1 allele and a novel splice mutation c.628-3T&amp;gt;G in the retained allele, with one SMN2 copy. Patient-derived sequencing of 4 SMN1 cDNA clones showed that this intronic single transversion mutation results in an alternative exon (e)5 3\u2032 splice site, which leads to an additional 2 nucleotides (AG) at the 5\u2032 end of e5, thereby explaining why the patient with only one copy of SMN2 had a mild clinical phenotype. Additionally, a minigene assay of wild type and mutant SMN1 in HEK293T cells also demonstrated that this transversion mutation induced e5 skipping. Considering treatment cost and goals of avoiding pain caused by injections and starting treatment as early as possible, risdiplam was prescribed for this patient. However, the patient showed remarkable clinical improvements after treatment with risdiplam for 7\u00a0months despite carrying only one copy of SMN2. This study is the first report on the treatment of risdiplam in a patient with one SMN2 copy in a real-world setting. These findings expand the mutation spectrum of SMA and provide accurate genetic counseling information, as well as clarify the molecular mechanism of careful genotype\u2013phenotype correlation of the patient.<\/jats:p>","DOI":"10.1093\/hmg\/ddae052","type":"journal-article","created":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T03:49:37Z","timestamp":1710388177000},"page":"1120-1130","source":"Crossref","is-referenced-by-count":8,"title":["Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one\n                    <i>SMN2<\/i>\n                    copy"],"prefix":"10.1093","volume":"33","author":[{"given":"Kai","family":"Ma","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"},{"name":"Children\u2019s Hospital Affiliated to Shandong University Department of neurology, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaihui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Defang","family":"Chen","sequence":"additional","affiliation":[{"name":"Central Hospital Affiliated to Shandong First Medical University The Office of operation management committee, , Jiefang road NO. 105, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Science, Education and Foreign Affairs Section, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnad","family":"Abdalla","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haozheng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rujin","family":"Tian","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Liu","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"},{"name":"Children\u2019s Hospital Affiliated to Shandong University Ophthalmology department, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Song","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Hematology and Oncology, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Second People\u2019s Hospital of Shandong Province Intensive Care Unit, , Duanxing west road NO. 4, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangfang","family":"Liu","sequence":"additional","affiliation":[{"name":"Central Hospital Affiliated to Shandong First Medical University Department of Ultrasound, , Jiefang road NO. 105, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guohua","family":"Liu","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Ophthalmology department, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6473-5872","authenticated-orcid":false,"given":"Dong","family":"Wang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Affiliated to Shandong University Pediatric Research Institute, , Jingshi road NO. 23976, Jinan, SD 250022, PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,3,23]]},"reference":[{"key":"2024062108412506000_ref1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum Mutat"},{"key":"2024062108412506000_ref2","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin"},{"key":"2024062108412506000_ref3","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1046\/j.1471-0528.2002.02083.x","article-title":"Prenatal diagnosis for risk of spinal muscular 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Neurol"},{"key":"2024062108412506000_ref7","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1146\/annurev-genom-102319-103602","article-title":"Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next","volume":"21","author":"Wirth","year":"2020","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2024062108412506000_ref8","doi-asserted-by":"crossref","first-page":"7896","DOI":"10.3390\/ijms22157896","article-title":"Genomic variability in the survival motor neuron genes (SMN1 and SMN2): implications for spinal muscular atrophy phenotype and therapeutics development","volume":"22","author":"Butchbach","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2024062108412506000_ref9","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.bbagrm.2016.12.008","article-title":"Diverse role of survival motor neuron protein","volume":"1860","author":"Singh","year":"2017","journal-title":"Biochim Biophys Acta"},{"key":"2024062108412506000_ref10","doi-asserted-by":"crossref","first-page":"e530","DOI":"10.1212\/NXG.0000000000000530","article-title":"Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy","volume":"6","author":"Cusco","year":"2020","journal-title":"Neurol Genet"},{"key":"2024062108412506000_ref11","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via Newborn screening who have 4 copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J Neuromuscul Dis"},{"key":"2024062108412506000_ref12","doi-asserted-by":"crossref","first-page":"145","DOI":"10.3233\/JND-180304","article-title":"Treatment algorithm for infants diagnosed with spinal muscular atrophy through Newborn screening","volume":"5","author":"Glascock","year":"2018","journal-title":"J Neuromuscul 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cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"2024062108412506000_ref37","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/j.1471-4159.2012.07689.x","article-title":"Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron","volume":"121","author":"Locatelli","year":"2012","journal-title":"J Neurochem"},{"key":"2024062108412506000_ref38","doi-asserted-by":"crossref","first-page":"e1004489","DOI":"10.1371\/journal.pgen.1004489","article-title":"SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in drosophila","volume":"10","author":"Praveen","year":"2014","journal-title":"PLoS Genet"},{"key":"2024062108412506000_ref39","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s12031-014-0483-4","article-title":"Novel splice-site mutation in SMN1 associated with a very severe SMA-I 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