{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:07:27Z","timestamp":1761102447724,"version":"3.37.3"},"reference-count":21,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>The archain 1 (<jats:italic>ARCN1<\/jats:italic>) gene encodes the coatomer subunit delta protein and is a component of the COPI coatomer complex, which is involved in retrograde vesical trafficking from the Golgi complex to the endoplasmic reticulum. Variants in <jats:italic>ARCN1<\/jats:italic> have recently been associated with rhizomelic short stature with microcephaly, microretrognathia, and developmental delay. Here we report a 3.5-yr-old boy with microcephaly, global developmental delay, and multiple congenital abnormalities and the <jats:italic>ARCN1-<\/jats:italic>related syndrome caused by a novel de novo intronic variant. Whole-exome sequencing of the proband and his parents was utilized to determine the genetic origin of the patient's disorder and identified a de novo variant, NM_001655.5:c.654-15A &gt; G, in the <jats:italic>ARCN1<\/jats:italic> gene. Follow-up functional characterization of mRNA from the patient demonstrated that this variant creates a splicing defect of the <jats:italic>ARCN1<\/jats:italic> mRNA. <jats:italic>ARCN1<\/jats:italic>-related syndrome represents an emerging disorder of developmental delay, and this report represents the sixth described patient. Despite the few instances reported in literature, the phenotype is consistent between our patient and previously reported individuals.<\/jats:p>","DOI":"10.1101\/mcs.a005728","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T22:21:13Z","timestamp":1604614873000},"page":"a005728","source":"Crossref","is-referenced-by-count":9,"title":["Novel de novo <i>ARCN1<\/i> intronic variant causes rhizomelic short stature with microretrognathia and developmental delay"],"prefix":"10.1101","volume":"6","author":[{"given":"Timothy","family":"Tidwell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4437-5969","authenticated-orcid":false,"given":"Malia","family":"Deshotel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice","family":"Palumbos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Miller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar","family":"Bayrak-Toydemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2020,11,5]]},"reference":[{"key":"2021112506223338000_6.6.a005728.1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aal5209"},{"key":"2021112506223338000_6.6.a005728.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"2021112506223338000_6.6.a005728.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx362"},{"key":"2021112506223338000_6.6.a005728.4","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2016.36"},{"key":"2021112506223338000_6.6.a005728.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.011"},{"key":"2021112506223338000_6.6.a005728.6","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2016-311271"},{"key":"2021112506223338000_6.6.a005728.7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.5.1185"},{"key":"2021112506223338000_6.6.a005728.8","doi-asserted-by":"publisher","DOI":"10.1089\/cmb.1997.4.311"},{"key":"2021112506223338000_6.6.a005728.9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.148"},{"key":"2021112506223338000_6.6.a005728.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61190"},{"key":"2021112506223338000_6.6.a005728.11","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2015.3"},{"key":"2021112506223338000_6.6.a005728.12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.17.7155"},{"key":"2021112506223338000_6.6.a005728.13","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2016.46"},{"key":"2021112506223338000_6.6.a005728.14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20901"},{"key":"2021112506223338000_6.6.a005728.15","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0554-6"},{"key":"2021112506223338000_6.6.a005728.16","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900234"},{"key":"2021112506223338000_6.6.a005728.17","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999"},{"key":"2021112506223338000_6.6.a005728.18","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2164"},{"key":"2021112506223338000_6.6.a005728.19","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3279"},{"key":"2021112506223338000_6.6.a005728.20","doi-asserted-by":"publisher","DOI":"10.1089\/1066527041410418"},{"key":"2021112506223338000_6.6.a005728.21","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.919"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a005728","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:22:41Z","timestamp":1637850161000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a005728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,5]]},"references-count":21,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2020,12,17]]},"published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1101\/mcs.a005728"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a005728","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"type":"print","value":"2373-2865"},{"type":"electronic","value":"2373-2873"}],"subject":[],"published":{"date-parts":[[2020,11,5]]}}}