{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T05:53:34Z","timestamp":1791006814122,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n Objectives<\/jats:title>\n \n To investigate the distribution proportions of the\n SMN1<\/jats:italic>\n gene in spinal muscular atrophy (SMA) using single\u2010molecule real\u2010time sequencing (SMRT), thereby providing supplementary evidence for SMA genotyping.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A retrospective analysis was conducted on 771 subjects who underwent both real\u2010time quantitative PCR and SMRT sequencing tests, followed by statistical analysis.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Among the 771 enrolled individuals, the male\u2010to\u2010female ratio was 2:3, with a median age of 31\u2009years. The detection results obtained from real\u2010time quantitative PCR and SMRT sequencing were consistent. Using SMRT sequencing, the proportions of samples with\n SMN1<\/jats:italic>\n copy numbers 1, 2, 3, and 4 were 2.33% (18\/771), 91.18% (703\/771), 6.36% (49\/771), and 0.13% (1\/771), respectively. For\n SMN2<\/jats:italic>\n , the proportions with 0, 1, 2, 3, and 4 copies were 6.10% (47\/771), 33.07% (255\/771), 57.59% (444\/771), 2.98% (23\/771), and 0.26% (2\/771), respectively. The carrier frequency of\n SMN1<\/jats:italic>\n deletions was 2.33% (18\/771). Additionally, we analyzed four SMA patients using SMRT sequencing. The results demonstrate that this technology accurately detects\n SMN1<\/jats:italic>\n and\n SMN2<\/jats:italic>\n copy numbers, providing essential information for patient diagnosis and clinical management.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n With results fully concordant with qPCR, SMRT sequencing enables accurate detection of\n SMN1<\/jats:italic>\n and\n SMN2<\/jats:italic>\n copy numbers, providing robust technical support for population\u2010based prevention, genetic counseling, and clinical management of SMA.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70314","type":"journal-article","created":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T05:14:27Z","timestamp":1791004467000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Practice of Single\u2010Molecule Real\u2010Time Sequencing in the Diagnosis of Spinal Muscular Atrophy"],"prefix":"10.1002","volume":"14","author":[{"given":"Hua","family":"Wei","sequence":"first","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya\u2010Wen","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning\u2010Ke","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tie\u2010Li","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie\u2010Xiang","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tian\u2010You","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1442-6649","authenticated-orcid":false,"given":"Shu\u2010Rong","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetic Center Zhangzhou Affiliated Hospital of Fujian Medical University Zhangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.cca.2023.117743","article-title":"A High\u2010Fidelity Long\u2010Read Sequencing\u2010Based Approach Enables Accurate and Effective Genetic Diagnosis of Spinal Muscular Atrophy","volume":"553","author":"Bai J.","year":"2023","journal-title":"Clinica Chimica Acta\u2014International Journal of Clinical Chemistry"},{"key":"e_1_2_12_3_1","doi-asserted-by":"crossref","DOI":"10.1038\/srep11696","article-title":"Decay in Survival Motor Neuron and Plastin 3 Levels During Differentiation of iPSC\u2010Derived Human Motor Neurons","volume":"5","author":"Boza\u2010Moran M. 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