{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T11:51:47Z","timestamp":1781610707945,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T00:00:00Z","timestamp":1781568000000},"content-version":"vor","delay-in-days":166,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis. It shares overlapping features with Marfan syndrome (MFS). This condition is caused by pathogenic variants in the fibrillin 2 (\n                    <jats:italic>FBN2<\/jats:italic>\n                    ) gene. Currently, approximately 200 variants in\n                    <jats:italic>FBN2<\/jats:italic>\n                    have been identified, with most of the variants located in the middle region of the gene (Exons 24\u201335). Here, we investigated the genetic etiology of CCA in two unrelated Chinese families. Whole\u2010exome sequencing (WES) identified a novel in\u2010frame deletion variant, NM_001999.4: c.4195_4209del, p.Trp1399_Gly1403del, in Exon 32 of\n                    <jats:italic>FBN2<\/jats:italic>\n                    that was detected in all 3 affected patients but absent in 6 unaffected family members. The other novel missense variant in Exon 27 of\n                    <jats:italic>FBN2<\/jats:italic>\n                    (c.3521G\u2009&gt;\u2009A, p.Cys1174Tyr) was identified in an 8\u2010month\u2010old female patient who was diagnosed with CCA. This variant was verified to be inherited from her unaffected mother with low\u2010level mosaicism. Our study expands the mutation spectrum of\n                    <jats:italic>FBN2<\/jats:italic>\n                    and provides insights into the genotype\u2013phenotype relationship in CCA as well as a foundation for its genetic diagnosis, counseling, and management.\n                  <\/jats:p>","DOI":"10.1155\/genr\/8521542","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T11:00:16Z","timestamp":1781607616000},"source":"Crossref","is-referenced-by-count":0,"title":["Two Novel\n                    <i>FBN2<\/i>\n                    Variants Causing Congenital Contractural Arachnodactyly"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3999-8969","authenticated-orcid":false,"given":"Juan","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolan","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijun","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoqing","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Fang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kexin","family":"Ruan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sujian","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanghong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7344-4337","authenticated-orcid":false,"given":"Hui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8510-0419","authenticated-orcid":false,"given":"Haiming","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"key":"e_1_2_14_1_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.49.4.574"},{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10017"},{"key":"e_1_2_14_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0609-8"},{"key":"e_1_2_14_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.804202"},{"key":"e_1_2_14_5_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2025.1564824"},{"key":"e_1_2_14_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<;233::AID-AJMG7>;3.0.CO;2-"},{"key":"e_1_2_14_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_14_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.207"},{"key":"e_1_2_14_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_14_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_14_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2011.12.008"},{"key":"e_1_2_14_12_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.124.5.855"},{"key":"e_1_2_14_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20794"},{"key":"e_1_2_14_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24383"},{"key":"e_1_2_14_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.07.023"},{"key":"e_1_2_14_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.124.004672"},{"key":"e_1_2_14_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-20"},{"key":"e_1_2_14_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0355-6"},{"key":"e_1_2_14_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00586-005-0980-9"},{"key":"e_1_2_14_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2020-237904"},{"key":"e_1_2_14_21_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1035887"},{"key":"e_1_2_14_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-024-00264-1"},{"key":"e_1_2_14_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2024-110533"}],"container-title":["Genetics 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