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Three different\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    variants have been reported in individuals with AMC. Here, we report on a 16\u2010year\u2010old male with a homozygous\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    c.250+1G&gt;A variant that was classified as a variant of uncertain significance on trio genome analysis. The proband's phenotype resembled that of previously reported individuals with\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    variants, but also included an absent patella and advanced bone age, which have not been reported in\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    \u2010related AMC. RNA extracted from urine\u2010derived cells showed a splice defect of exon 4. This caused a deletion of two base pairs from the end of the exon, expected to result in a frameshift and nonsense\u2010mediated decay. This report expands the number of\n                    <jats:italic>ERGIC1<\/jats:italic>\n                    variants linked to AMC and demonstrates the utility of RNA\u2010based diagnostic methods.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.70012","type":"journal-article","created":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T02:30:42Z","timestamp":1778898642000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Splice Variant in\n                    <i>ERGIC1<\/i>\n                    Causes Arthrogryposis Multiplex Congenita\u2014Characterization Using Urine\u2010Derived Cells"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3492-3448","authenticated-orcid":false,"given":"Lauren","family":"Kerr","sequence":"first","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Department of Human Genetics McGill University  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"McKay","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Department of Human Genetics McGill University  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana","family":"Marulanda","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Faculty of Dental Medicine and Oral Health Sciences McGill University  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zenghui","family":"Wu","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reggie","family":"Hamdy","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sena","family":"Tavukcu","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"No\u00e9mi","family":"Dahan\u2010Oliel","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"School of Physical and Occupational Therapy McGill University  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Canada"},{"name":"Department of Pediatrics McGill University  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587\u2010024\u201002382\u20101"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M406644200"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31739"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen\u20102021\u2010060591"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.03.008"},{"key":"e_1_2_10_7_1","unstructured":"Illumina.2019.\u201cIllumina DRAGEN Bio\u2010IT Platform v3.2.8 User Guide.\u201d"},{"issue":"6","key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1542\/peds.46.6.891","article-title":"Arthrogryposis Multiplex Congenita: Twenty\u2010Three Cases in an Arab Kindred","volume":"46","author":"Lebenthal 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