{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T23:42:29Z","timestamp":1769557349280,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,27]],"date-time":"2021-02-27T00:00:00Z","timestamp":1614384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (<jats:italic>FBN2<\/jats:italic>). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, scoliosis, abnormal pinnae, muscular hypoplasia, and crumpled ears.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used whole\u2010exome sequencing technology to examine an arthrogryposis multiplex congenita and used Sanger sequencing technology to genetically confirm its family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>FBN2<\/jats:italic> c.3344A&gt;T(p.D1115V) was identified in this family with CCA in a pedigree. Prenatal diagnosis and counseling were carried out simultaneously to avoid the birth of the sick fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The study is on <jats:italic>FBN2<\/jats:italic> variant in CCA, which potentially having implications for genetic counseling and clinical management, our study may provide new insights into the cause and diagnosis of CCA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1638","type":"journal-article","created":{"date-parts":[[2021,2,27]],"date-time":"2021-02-27T10:05:07Z","timestamp":1614420307000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8804-454X","authenticated-orcid":false,"given":"Lin","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Blood Transfusion Second Affiliated Hospital of Soochow University Suzhou China"},{"name":"Key Laboratory of Medical Genetics Wenzhou Central Hospital Wenzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4625-3057","authenticated-orcid":false,"given":"Huanzheng","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Medical Genetics Wenzhou Central Hospital Wenzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Yinchuan Women and Children Healthcare Hospital Yinchuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Wu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Medical Genetics Wenzhou Central Hospital Wenzhou China"},{"name":"Prenatal Diganosis Center Yiwu Maternity and Child Health Care Hospital Yiwu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaotang","family":"Luan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Medical Genetics Wenzhou Central Hospital Wenzhou China"},{"name":"Department of Clinical Laboratory Weifang Hospital of Traditional Chinese Medicine Weifang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanbao","family":"Xiang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Medical Genetics Wenzhou Central Hospital Wenzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaohua","family":"Tang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Medical Genetics Wenzhou Central Hospital Wenzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,27]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20854"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2003.08.023"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds514"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.207"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20794"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2012.02.016"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10017"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000217"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/352330a0"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100609\u20108"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2007.129759"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980724)78:4<350::AID-AJMG9>3.0.CO;2-P"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19960329)62:3<233:AID\u2010AJMG7>3.0.CO;2\u2010U"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092\u20108674(95)90059\u20104"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu276"},{"key":"e_1_2_11_18_1","volume-title":"Connective tissue and its heritable disorders: Molecular, genetic, and medical aspects","author":"Royce P. 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