{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T21:09:12Z","timestamp":1782940152018,"version":"3.54.5"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T00:00:00Z","timestamp":1548633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero\u2010octameric proteins involved in retrograde trafficking within the Golgi. Seven of its eight subunits have a causal role in CDG. To date, only three cases of COG8\u2010CDG have been published but none in the antenatal period. We present the first case of antenatally diagnosed COG8\u2010CDG with facial dysmorphism and additional features such as Dandy\u2010Walker malformation and arthrogryposis multiplex congenita, thus expanding the phenotype of this rare disorder. Trio whole exome sequencing revealed a novel homozygous variant in <jats:italic>COG8<\/jats:italic>, which creates a new splice site in exon 5 and protein truncation after 12 amino acids downstream to the newly generated splice site. As the mutations of the previous three patients were also identified in exon 5, it is likely to be a potential mutational hotspot in <jats:italic>COG8<\/jats:italic>. An association between antenatally increased nuchal translucency and COG8\u2010CDG is also established, which would alert clinicians to its diagnosis early in gestation. It remains to be seen if this observation can be extended to other COG\u2010CDGs.<\/jats:p>","DOI":"10.1002\/ajmg.a.61030","type":"journal-article","created":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T23:34:24Z","timestamp":1548718464000},"page":"480-485","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The first case of antenatal presentation in COG8\u2010congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2874-2917","authenticated-orcid":false,"given":"Veronica","family":"Arora","sequence":"first","affiliation":[{"name":"Institute of Genetics and Genomics, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2694-6147","authenticated-orcid":false,"given":"Ratna Dua","family":"Puri","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Genomics, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratibha","family":"Bhai","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Genomics, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidhish","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunita","family":"Bijarnia\u2013Mahay","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Genomics, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nandita","family":"Dimri","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Baijal","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Genomics, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ishwar","family":"Verma","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Genomics, Sir Ganga Ram Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5102"},{"key":"e_1_2_9_3_1","doi-asserted-by":"crossref","unstructured":"Daum H. Meiner V. Elpeleg O. &Harel T.(2018).Fetal exome sequencing: yield and limitations in a single tertiary center. Ultrasound in Obstetrics and Gynecology doi:10.1002\/uog.19168. [Epub ahead of print].","DOI":"10.1002\/uog.19168"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4675"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0507685103"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0507685103"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl476"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M504597200"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37184"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214010"},{"key":"e_1_2_9_11_1","first-page":"103","article-title":"Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6\u2010CDG): Second patient, different phenotype","volume":"4","author":"Huybrechts S.","year":"2012","journal-title":"Journal of Metabolic Disorders"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.102.5.1576"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12417"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm028"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37232"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.06.009"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq278"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201813"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.02.011"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.11.161"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2018.03.002"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e03-09-0699"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-23597"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp389"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.01-10-0495"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.07.003"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp262"},{"key":"e_1_2_9_28_1","first-page":"64","volume-title":"Molecular cloning: A laboratory manual","author":"Sambrook J.","year":"2001"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101527"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)11280-6"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200111081"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2005.12.004"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200202016"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M504590200"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1041"},{"key":"e_1_2_9_36_1","unstructured":"World Health Organization(WHO) (2018). Growth charts. Retrieved fromhttp:\/\/www.who.int\/childgrowth\/standards\/en\/"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2017.06.010"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.06.006"}],"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.61030","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61030","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61030","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T20:43:38Z","timestamp":1693946618000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,28]]},"references-count":37,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1002\/ajmg.a.61030"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61030","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,28]]},"assertion":[{"value":"2018-08-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}