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There are various etiologies for <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content> including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16 patients affected with <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content> neuropathic type, and mapped the locus to a 5.5 cM interval on chromosome 5qter. Using whole exome sequencing, we have now identified homozygous pathogenic variant in the <jats:italic>\n<jats:styled-content style=\"fixed-case\">ERGIC1<\/jats:styled-content><\/jats:italic> gene within the previously defined linked region. <jats:italic>ERGIC1<\/jats:italic> encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi. We further show that this mutation was absent in more than 200 samples of healthy unrelated individuals of the Israeli Arab population. Thus, our findings expand the spectrum of hereditary <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content> and suggest that abnormalities in protein trafficking may underlie <jats:styled-content style=\"fixed-case\">AMC<\/jats:styled-content>\u2010related disorders.<\/jats:p>","DOI":"10.1111\/cge.13018","type":"journal-article","created":{"date-parts":[[2017,3,20]],"date-time":"2017-03-20T02:56:44Z","timestamp":1489978604000},"page":"160-163","source":"Crossref","is-referenced-by-count":13,"title":["Mutations in <i><scp>ERGIC1<\/scp><\/i> cause Arthrogryposis multiplex congenita, neuropathic type"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3973-586X","authenticated-orcid":false,"given":"E.","family":"Reinstein","sequence":"first","affiliation":[{"name":"Medical Genetics Institute Meir Medical Center  Kfar\u2010Saba Israel"},{"name":"Sackler School of Medicine Tel Aviv University  Tel Aviv 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