{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T16:53:25Z","timestamp":1781196805998,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,6,14]],"date-time":"2021-06-14T00:00:00Z","timestamp":1623628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Arthrogryposis describes the presence of multiple joint\u2010contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these,\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    is a recently reported candidate encoding a putative transmembrane protein of the ER\u2010Golgi interface. Two homozygous missense variants have been reported in patients with relatively mild non\u2010syndromic arthrogryposis. In a consanguineous family with two affected siblings presenting congenital arthrogryposis and some facial dysmorphism we performed prenatal array\u2010CGH, postnatal targeted exome and genome sequencing. Genome sequencing identified a homozygous 22.6\u2009Kb deletion encompassing the promoter and first exon of\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    . mRNA quantification showed the complete absence of\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    expression in the two affected siblings and a decrease in heterozygous parents. Our observations validate the pathogenic role of\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    in congenital arthrogryposis and demonstrate that complete loss of function causes a relatively mild phenotype. These findings will contribute to improve genetic counseling of\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1111\/cge.14004","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T05:30:14Z","timestamp":1622007014000},"page":"329-333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Bi\u2010allelic loss of\n                    <scp>\n                      <i>ERGIC1<\/i>\n                    <\/scp>\n                    causes relatively mild arthrogryposis"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1210-3969","authenticated-orcid":false,"given":"Caterina","family":"Marconi","sequence":"first","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laure","family":"Lemmens","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Masclaux","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Mattioli","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00ebl","family":"Fluss","sequence":"additional","affiliation":[{"name":"Pediatric Specialties division Department of Women, Children and Adolescents, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Extermann","sequence":"additional","affiliation":[{"name":"Prenatal Ultrasonography Dianecho  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Purificacion","family":"Mendez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Centre M\u00e9dical Eaux\u2010Vives  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russia Ha\u2010Vinh","family":"Leuchter","sequence":"additional","affiliation":[{"name":"Pediatric Specialties division Department of Women, Children and Adolescents, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elissavet","family":"Stathaki","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Laurent","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Hammar","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Vannier","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konstantinos","family":"Varvagiannis","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Guipponi","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"},{"name":"Department of Genetic Medicine and Development, School of Medicine University of Geneva  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Sloan\u2010Bena","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"},{"name":"Department of Genetic Medicine and Development, School of Medicine University of Geneva  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Louis","family":"Blouin","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"},{"name":"Department of Genetic Medicine and Development, School of Medicine University of Geneva  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0623-8768","authenticated-orcid":false,"given":"Marc","family":"Abramowicz","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"},{"name":"Department of Genetic Medicine and Development, School of Medicine University of Geneva  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siv","family":"Fokstuen","sequence":"additional","affiliation":[{"name":"Genetic Medicine division Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve (CH) Switzerland"},{"name":"Department of Genetic Medicine and Development, School of Medicine University of Geneva  Gen\u00e8ve (CH) Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,14]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Arthrogryposis: A Text Atlas","author":"Staheli 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