{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T22:02:24Z","timestamp":1790460144747,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,1,30]],"date-time":"2017-01-30T00:00:00Z","timestamp":1485734400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ontario Research Fund"},{"name":"Genome Quebec"},{"name":"Children's Hospital of Eastern Ontario Foundation"},{"DOI":"10.13039\/100012856","name":"Alberta Children's Hospital Research Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012856","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000145","name":"Alberta Innovates Health Solutions","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000145","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:p>Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">GLE1<\/jats:styled-content><\/jats:italic> cause two recessive subtypes of arthrogryposis multiplex congenita (<jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content>), a condition characterized by joint contractures at birth, and all previously reported patients died in the perinatal period. <jats:italic><jats:styled-content style=\"fixed-case\">GLE1<\/jats:styled-content><\/jats:italic> related <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content> has been almost exclusively reported in the Finnish population and is caused by a relatively common pathogenic splicing mutation in that population. Here, we report two non\u2010Finnish brothers with novel compound heterozygous splicing mutations in <jats:italic><jats:styled-content style=\"fixed-case\">GLE1<\/jats:styled-content><\/jats:italic>, one of whom has survived to 12 years of age. We also demonstrate low levels of residual wild type transcript in fibroblasts from the surviving brother, suggesting that this residual wild\u2010type transcript may contribute to the relatively longer\u2010term survival in this family. We provide a detailed clinical report on the surviving patient, providing the first insight into the natural history of this rare neuromuscular disease. We also suggest that lethal congenital contracture syndrome 1 (<jats:styled-content style=\"fixed-case\">LCCS1<\/jats:styled-content>) and lethal arthrogryposis with anterior horn disease (<jats:styled-content style=\"fixed-case\">LAAHD<\/jats:styled-content>), the two <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content> subtypes related to <jats:styled-content style=\"fixed-case\">GLE1<\/jats:styled-content>, do not have sufficient clinical or molecular differentiation to be considered allelic disorders. Rather, <jats:italic><jats:styled-content style=\"fixed-case\">GLE1<\/jats:styled-content><\/jats:italic> mutations cause a variable spectrum of <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content> severity including a non\u2010lethal variant described herein.<\/jats:p>","DOI":"10.1111\/cge.12876","type":"journal-article","created":{"date-parts":[[2016,9,29]],"date-time":"2016-09-29T17:38:07Z","timestamp":1475170687000},"page":"426-430","source":"Crossref","is-referenced-by-count":22,"title":["Expansion of the <scp>GLE1<\/scp>\u2010associated arthrogryposis multiplex congenita clinical spectrum"],"prefix":"10.1111","volume":"91","author":[{"given":"C.","family":"Smith","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.S.","family":"Parboosingh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[{"name":"Neuromuscular and Neurogenetic Disorders of Childhood Section National Institutes of Health  Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.K.","family":"Mah","sequence":"additional","affiliation":[{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"},{"name":"Division of Neurology, Department of Pediatrics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.E.","family":"Lamont","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Micheil Innes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.P.","family":"Bernier","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.5402\/2012\/264918"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.65"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290109"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0046-8177(95)90109-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.05.003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.5.1185"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"e_1_2_6_11_1","unstructured":"Interactive Biosoftware. 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