{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T22:08:35Z","timestamp":1768687715922,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,5,31]],"date-time":"2015-05-31T00:00:00Z","timestamp":1433030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Congenital disorders of Glycosylation (CDG) are increasingly emerging as a major underlying etiology for patients with complex neurogenetic malformations and dysmorphic features. We describe a newborn female with arthrogryposis multiplex due to fetal akinesia secondary to CDG\u2010DPAGT1. Pregnancy was complicated by reduced fetal movements. At birth, the patient was evaluated for intrauterine growth restriction, bilateral cataracts, and multiple joint contractures. She had markedly reduced spontaneous movements, hypotonia, weak cry, and poor suck. She had ventilator\u2010dependent central respiratory depression. Brain MRI showed delayed myelination and an incomplete cerebellar vermis. Transferrin isoelectric focusing was suggestive of a type I congenital disorder of glycosylation. Sequencing revealed a homozygous missense mutation in dolichyl\u2010phosphate N\u2010acetylglucosaminephosphotransferase (DPAGT1), exon 3, p.Leu118Val, consistent with DPAGT1\u2010CDG. There have been seventeen previously reported cases of DPAGT1\u2010CDG, including two similar cases with multiple contractures. This case highlights the importance of considering congenital disorders of glycosylation in the differential diagnosis for arthrogryposis. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37184","type":"journal-article","created":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T05:15:15Z","timestamp":1433135715000},"page":"2411-2417","source":"Crossref","is-referenced-by-count":13,"title":["Fetal akinesia deformation sequence due to a congenital disorder of glycosylation"],"prefix":"10.1002","volume":"167","author":[{"given":"Rebecca","family":"Ganetzky","sequence":"first","affiliation":[{"name":"Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Section of Biochemical Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Section of Biochemical Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Edmondson","sequence":"additional","affiliation":[{"name":"The Perelman School of Medicine at The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen Clarke","family":"Muraresku","sequence":"additional","affiliation":[{"name":"Section of Biochemical Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Perelman School of Medicine at The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Deardorff","sequence":"additional","affiliation":[{"name":"Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Perelman School of Medicine at The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaya","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Genetics Program, Children's Regional Hospital Cooper University Health Care"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,31]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"309","article-title":"Clinical and biochemical characterization of the second CDG\u2010ij (DPAGT1\u2010CDG) patient","volume":"34","author":"Adamowicz M","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.00281"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.022"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurad.2009.12.009"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35472"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1108-x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_57"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.257"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.05.012"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.5402\/2012\/264918"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq261"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0822-0"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0250"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds123"},{"key":"e_1_2_5_16_1","first-page":"135","article-title":"Molecular diagnosis of congenital disorders of glycosylation","volume":"63","author":"Vuillaumier\u2010Barrot S","year":"2005","journal-title":"Ann Biol Clin (Paris)"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10239"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.01.001"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37184","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37184","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T11:09:24Z","timestamp":1694344164000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,31]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["10.1002\/ajmg.a.37184"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37184","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,31]]}}}