{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T22:01:23Z","timestamp":1790460083450,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T00:00:00Z","timestamp":1504828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U54HG006493"],"award-info":[{"award-number":["U54HG006493"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["U54HG006493"],"award-info":[{"award-number":["U54HG006493"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Mutations in\n                      <jats:italic>GLE1<\/jats:italic>\n                      underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi\u2010allelic mutations in\n                      <jats:italic>GLE1<\/jats:italic>\n                      in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C\u2010terminus of GLE1 that are predicted to disrupt protein\u2013protein interaction or GLE1 protein targeting. We hypothesize that mutations that preserve function of the coiled\u2010coil domain of GLE1 cause LAAHD whereas mutations that abolish the function of the coiled\u2010coil domain cause LCCS. The phenotype of LAAHD is now expanded to include multiple individuals surviving into childhood suggesting that LAAHD is a misnomer and should be re\u2010named Arthrogryposis with Anterior Horn Cell Disease (AAHD).\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38406","type":"journal-article","created":{"date-parts":[[2017,9,8]],"date-time":"2017-09-08T06:55:43Z","timestamp":1504853743000},"page":"3098-3103","source":"Crossref","is-referenced-by-count":14,"title":["Survival beyond the perinatal period expands the phenotypes caused by mutations in\n                    <i>GLE1<\/i>"],"prefix":"10.1002","volume":"173","author":[{"given":"Edith","family":"Said","sequence":"first","affiliation":[{"name":"Department of Anatomy and Cell Biology University of Malta Msida Malta"},{"name":"Section of Medical Genetics Mater dei Hospital Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1616-2448","authenticated-orcid":false,"given":"Jessica X.","family":"Chong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Denecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Soler","sequence":"additional","affiliation":[{"name":"Department of Paediatics Mater dei Hospital Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Helmholtz Zentrum M\u00fcnchen Neuherberg Germany"},{"name":"Institute of Human Genetics Technische Universit\u00e4t M\u00fcnchen Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Nickerson","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Kubisch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael 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