{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T11:29:32Z","timestamp":1773660572625,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T00:00:00Z","timestamp":1442361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Pudong New Area of Science and Technology Development","award":["PKJ2013-Y62"],"award-info":[{"award-number":["PKJ2013-Y62"]}]},{"name":"Shanghai Jiao Tong University School of Medicine Science","award":["13XJ22009"],"award-info":[{"award-number":["13XJ22009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>The distal arthrogryposis (DA) syndromes are a group of disorders characterized by congenital contractures of limbs. According to phenotypical characteristics, DA syndromes have been clinically classified into 10 types. Currently, at least nine disease causing genes have been identified for different types of DA. Here, we report a 3\u2010generation Chinese pedigree with three DA affected members. We performed whole exome sequencing on two affected and one unaffected individuals of this family and successfully identified a novel missense mutation in <jats:italic>TNNI2<\/jats:italic> as the pathogenic mutation. The <jats:italic>TNNI2<\/jats:italic> gene encodes a subunit of the troponin complex, a contractile machinery of the muscle. The mutation p.F178C that could change the H\u2010bond formation of a neighboring residue occurs at a highly conserved position, suggesting that this variation probably affects the <jats:italic>TNNI2<\/jats:italic> protein function. Our study also demonstrates the power of whole exome sequencing in causal mutation identification for phenotypically variable and genetically heterogeneous disorders. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37391","type":"journal-article","created":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T07:47:18Z","timestamp":1442389638000},"page":"135-141","source":"Crossref","is-referenced-by-count":10,"title":["A novel missense mutation of <i>TNNI2<\/i> in a Chinese family cause distal arthrogryposis type 1"],"prefix":"10.1002","volume":"170","author":[{"given":"Bo","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaojing","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhigang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiou","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiqing","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedic Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qihua","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.00281"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35809"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.2000.2259"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150181505"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp587"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550406"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/352330a0"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.06.082"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.015"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.014"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.06.003"},{"key":"e_1_2_6_15_1","first-page":"75","article-title":"Familial distal arthrogryposis type I","volume":"39","author":"Stoll C","year":"1996","journal-title":"Ann Genet"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/376418"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040584"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004589"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37391","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37391","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T04:47:37Z","timestamp":1696567657000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,16]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1002\/ajmg.a.37391"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37391","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,16]]}}}