{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T04:10:01Z","timestamp":1749442201520,"version":"3.41.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T00:00:00Z","timestamp":1745366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82472535"],"award-info":[{"award-number":["82472535"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthopaedic Surgery"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD. While seven loci potentially associated with SCD have been identified, rare cases remain unexplained.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentations<\/jats:title><jats:p>A 37\u2010year\u2010old female diagnosed with SCD at birth was reported in this study. She exhibited scoliosis and thoracic asymmetry, along with a left\u2010sided bilateral breast deformity. Imaging analysis revealed congenital scoliosis with a lack of segmentation, deformity of multiple ribs, and a lower spinal cord. Using whole\u2010exome sequencing, we identified the genetic variant in the afflicted individual. We detected a heterozygous exon 16 FLNA variant in the afflicted individual and confirmed the absence of pathogenic variants of other known SCD\u2010associated genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The variant NM_001456.4: c.2351T&gt;C detected in this study enhances our knowledge of the pleiotropy linked with heterozygous FLNA variants. By expanding the mutation spectrum of FLNA, these findings will lay a foundation for further studies on the correlation between genotypes and phenotypes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/os.70026","type":"journal-article","created":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T08:10:59Z","timestamp":1745395859000},"page":"1890-1896","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense <scp>FLNA<\/scp> Variant"],"prefix":"10.1111","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2586-5111","authenticated-orcid":false,"given":"Haoyu","family":"Cai","sequence":"first","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2677-7438","authenticated-orcid":false,"given":"Xu'an","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-4225-5460","authenticated-orcid":false,"given":"Haojie","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6102-9371","authenticated-orcid":false,"given":"Junduo","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0624-0156","authenticated-orcid":false,"given":"Heng","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yizhen","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-3702-5760","authenticated-orcid":false,"given":"Jiayue","family":"Guo","sequence":"additional","affiliation":[{"name":"School of Health Policy and Management Chinese Academy of Medical Science &amp; Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1606-4370","authenticated-orcid":false,"given":"Jianxiong","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.202302651RR"},{"issue":"6","key":"e_1_2_9_3_1","first-page":"501","article-title":"Long\u2010Term Follow\u2010Up of Untreated Adult Patients With Spondylothoracic Dysostosis (Jarcho\u2010Levin Syndrome)","volume":"106","author":"Ram\u00edrez N.","year":"2024","journal-title":"Journal of Bone and Joint Surgery. American Volume"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102144\u20109"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03040-0"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2021.145575"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24002"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104939"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.01.001"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/35052082"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20240121"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.37"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl168"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00613.2023"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41594-018-0128-3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201901086"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcdd2030233"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-023-03776-4"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22094321"}],"container-title":["Orthopaedic Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/os.70026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,9]],"date-time":"2025-06-09T03:39:37Z","timestamp":1749440377000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/os.70026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,23]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1111\/os.70026"],"URL":"https:\/\/doi.org\/10.1111\/os.70026","archive":["Portico"],"relation":{},"ISSN":["1757-7853","1757-7861"],"issn-type":[{"type":"print","value":"1757-7853"},{"type":"electronic","value":"1757-7861"}],"subject":[],"published":{"date-parts":[[2025,4,23]]},"assertion":[{"value":"2024-11-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}