{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T01:55:17Z","timestamp":1768010117483,"version":"3.49.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T00:00:00Z","timestamp":1761523200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic\n                    <jats:italic>CPAMD8<\/jats:italic>\n                    variants (NM_015692.5:c.[2801delG];[4552C&gt;T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular features, including a slender build, scoliosis, arachnodactyly and positive thumb sign and wrist sign, which is reminiscent of Marfan syndrome. These findings may suggest that CPAMD8-related disorder is a syndromic condition associated with extraocular systemic features similar to those seen in Marfan syndrome.\n                  <\/jats:p>","DOI":"10.1038\/s41439-025-00329-9","type":"journal-article","created":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T08:34:49Z","timestamp":1761554089000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome"],"prefix":"10.1038","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8184-7742","authenticated-orcid":false,"given":"Daiju","family":"Oba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariko","family":"Sagara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sayuri","family":"Oda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miyu","family":"Fukushima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenta","family":"Hasumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Ohashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,27]]},"reference":[{"key":"329_CR1","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1016\/j.ygeno.2003.12.005","volume":"83","author":"ZF Li","year":"2004","unstructured":"Li, Z. F., Wu, X. H. & Engvall, E. Identification and characterization of CPAMD8, a novel member of the complement 3\/alpha2-macroglobulin family with a C-terminal Kazal domain. Genomics 83, 1083\u20131093 (2004).","journal-title":"Genomics"},{"key":"329_CR2","doi-asserted-by":"publisher","first-page":"1338","DOI":"10.1016\/j.ajhg.2016.09.022","volume":"99","author":"SS Cheong","year":"2016","unstructured":"Cheong, S. S. et al. Mutations in CPAMD8 cause a unique form of autosomal-recessive anterior segment dysgenesis. Am. J. Hum. Genet. 99, 1338\u20131352 (2016).","journal-title":"Am. J. Hum. Genet."},{"key":"329_CR3","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1136\/jmg.2009.072785","volume":"47","author":"BL Loeys","year":"2010","unstructured":"Loeys, B. L. et al. The revised Ghent nosology for the Marfan syndrome. J. Med. Genet. 47, 476\u2013485 (2010).","journal-title":"J. Med. Genet."},{"key":"329_CR4","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405\u2013424 (2015).","journal-title":"Genet. Med."},{"key":"329_CR5","first-page":"1017","volume":"20","author":"J Li","year":"2014","unstructured":"Li, J., Jia, X., Li, S., Fang, S. & Guo, X. Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis. Mol. Vis. 20, 1017\u20131024 (2014).","journal-title":"Mol. Vis."},{"key":"329_CR6","doi-asserted-by":"publisher","first-page":"791","DOI":"10.3390\/genes14040791","volume":"14","author":"M Musleh","year":"2023","unstructured":"Musleh, M. et al. The role of genetic testing in children requiring surgery for ectopia lentis. Genes 14, 791 (2023).","journal-title":"Genes"},{"key":"329_CR7","doi-asserted-by":"publisher","first-page":"e0222506","DOI":"10.1371\/journal.pone.0222506","volume":"14","author":"D Gentilini","year":"2019","unstructured":"Gentilini, D. et al. NGS analysis in Marfan syndrome spectrum: combination of rare and common genetic variants to improve genotype\u2013phenotype correlation analysis. PLoS ONE 14, e0222506 (2019).","journal-title":"PLoS ONE"},{"key":"329_CR8","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/j.ajo.2021.11.014","volume":"237","author":"TH Chen","year":"2022","unstructured":"Chen, T. H. et al. Combination of panel-based next-generation sequencing and clinical findings in congenital ectopia lentis diagnosed in Chinese patients. Am. J. Ophthalmol. 237, 278\u2013289 (2022).","journal-title":"Am. J. Ophthalmol."}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41439-025-00329-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-025-00329-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41439-025-00329-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T19:04:11Z","timestamp":1767985451000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41439-025-00329-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,27]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["329"],"URL":"https:\/\/doi.org\/10.1038\/s41439-025-00329-9","relation":{},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,27]]},"assertion":[{"value":"31 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 September 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 October 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests. Written informed consent was obtained from the patient and his parents to conduct this study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"24"}}