{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:17:28Z","timestamp":1790457448610,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Abraham & Sonia Rochlin Family Foundation","award":["260010223"],"award-info":[{"award-number":["260010223"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Pathogenic variants in the <jats:italic>TTN<\/jats:italic> gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known as titinopathies. We evaluated a consanguineous family multiple members affected with a lethal congenital contracture syndrome. Using exome sequencing, we identified a homozygous c.36122delC (p. P12041Lfs*20) variant in exon 167 in the fetal IC isoform of <jats:italic>TTN<\/jats:italic>. The finding expands the phenotypes that can be caused by pathogenic variants <jats:italic>TTN<\/jats:italic>, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis.<\/jats:p>","DOI":"10.1002\/ajmg.a.38639","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T03:36:53Z","timestamp":1522985813000},"page":"1001-1005","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A homozygous <i>TTN<\/i> gene variant associated with lethal congenital contracture syndrome"],"prefix":"10.1002","volume":"176","author":[{"given":"Elena","family":"Chervinsky","sequence":"first","affiliation":[{"name":"Genetics Institute, Emek Medical Center Afula 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