{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:08:46Z","timestamp":1787022526542,"version":"build-2736575974"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"12","funder":[{"DOI":"10.13039\/501100021171","name":"Basic and Applied Basic Research Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2023A1515011098, 2022A1515220117 and 2023A15151400"],"award-info":[{"award-number":["2023A1515011098, 2022A1515220117 and 2023A15151400"]}],"id":[{"id":"10.13039\/501100021171","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_cclm-2025-0175_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Spinal muscular atrophy (SMA) is a severe inherited neuromuscular disorder with a high carrier frequency and incidence rate. An accurate molecular method for\n                      <jats:italic>SMA<\/jats:italic>\n                      genes is crucial in carrier screening, clinical diagnosis, outcome assessment and precision therapies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2025-0175_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Comprehensively using the multiplex allele specific PCR (mASPCR) and capillary electrophoresis (CE), a novel single tube assay was developed to simultaneously determine the copy number of\n                      <jats:italic>SMN1<\/jats:italic>\n                      \/\n                      <jats:italic>SMN2<\/jats:italic>\n                      \/\n                      <jats:italic>NAIP<\/jats:italic>\n                      genes and five common loss-of-function variants in\n                      <jats:italic>SMN1<\/jats:italic>\n                      . A total of 283 genotype known subjects were detected to evaluate the accuracy, while 564 clinical random samples were double-blind detected with this assay and MLPA to assess the specificity and sensitivity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2025-0175_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>This assay had high accuracy of 100\u202f% consistency with the predetermined values in 283 genotype known subjects. Among 564 clinical random samples, the correlation between this assay and comparative method was 100\u202f%, which showing high specificity and sensitivity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_cclm-2025-0175_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This mASPCR-CE assay is easy to use and cost-effective, making it suitable for routine use in molecular screening and clinical diagnosis of SMA.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/cclm-2025-0175","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T13:56:32Z","timestamp":1755525392000},"page":"2406-2414","source":"Crossref","is-referenced-by-count":3,"title":["A multiplex allele specific PCR capillary electrophoresis (mASPCR-CE) assay for simultaneously analysis of\n                    <i>SMN1\/SMN2<\/i>\n                    \/\n                    <i>NAIP<\/i>\n                    copy number and\n                    <i>SMN1<\/i>\n                    loss-of-function variants"],"prefix":"10.1515","volume":"63","author":[{"given":"Yunli","family":"Lai","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences , 70570 Southern Medical University , Guangzhou , China"},{"name":"Guangxi Clinical Research Center for Birth Defects, Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention , Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region , Nanning , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Laboratory Medicine and Biotechnology , 70570 Institute of Antibody Engineering, Southern Medical University , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shijie","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences , 70570 Southern Medical University , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yajun","family":"Chen","sequence":"additional","affiliation":[{"name":"Shaoguan Maternal and Child Health Hospital , Shaoguan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjun","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Radiotherapy , General Hospital of Southern Theatre Command , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyu","family":"Wang","sequence":"additional","affiliation":[{"name":"Guangzhou Darui Biotechnology Co., Ltd. , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeyan","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis , Huizhou First Maternal and Child Health Care Hospital , Huizhou , Guangdong , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuexi","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Laboratory Medicine and Biotechnology , 70570 Institute of Antibody Engineering, Southern Medical University , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanjun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Basic Medical Sciences , 70570 Southern Medical University , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2025,8,19]]},"reference":[{"key":"2025110712102424655_j_cclm-2025-0175_ref_001","doi-asserted-by":"crossref","unstructured":"Mercuri, E, Sumner, CJ, Muntoni, F, Darras, BT, Finkel, RS. 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