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Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024. Various molecular techniques, including multiplex ligation-dependent probe amplification analysis, long-range polymerase chain reaction (PCR) combined with nested PCR, Sanger sequencing, and whole-exome sequencing were employed to establish a thorough genetic variant profile in 680 Chinese pedigrees with clinically suspected SMA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Out of 680 families suspected of having SMA, 675 exhibited mutations in the\n                      <jats:italic>SMN1<\/jats:italic>\n                      gene, while three families were linked to mutations in the\n                      <jats:italic>IGHMBP2<\/jats:italic>\n                      gene. One family exhibited a genetic variation in the\n                      <jats:italic>NEB<\/jats:italic>\n                      gene, and another family exhibited a variation in the\n                      <jats:italic>SCO2<\/jats:italic>\n                      gene. Among the families with mutations in the\n                      <jats:italic>SMN1<\/jats:italic>\n                      gene, 645 families exhibited either E7\u2012E8 or E7 homozygous deletion. Some families displayed E7\u20128 heterozygous deletions along with other mutations, such as E1 or E1\u20126 heterozygote deletion and point mutations. Furthermore, one family demonstrated a compound-heterozygous double mutation, while another carried a type \u201c2\u2009+\u20090\u201d mutation alongside a point mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study comprehensively analyzed the genetics of suspected familial SMA cases in the Chinese population, providing insights into the molecular genetic mechanisms of SMA and the utility of various detection techniques. The findings revealed important implications for genetic counseling, prenatal diagnosis, and targeted therapies in clinical practice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03523-0","type":"journal-article","created":{"date-parts":[[2025,1,15]],"date-time":"2025-01-15T05:43:31Z","timestamp":1736919811000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families"],"prefix":"10.1186","volume":"20","author":[{"given":"Shanshan","family":"Gao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duo","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuechao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenhua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4322-914X","authenticated-orcid":false,"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,15]]},"reference":[{"issue":"2","key":"3523_CR1","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/S1474-4422(23)00502-1","volume":"23","author":"MA Farrar","year":"2024","unstructured":"Farrar MA, Kariyawasam DS. 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