{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T17:22:52Z","timestamp":1782580972287,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,8,4]],"date-time":"2020-08-04T00:00:00Z","timestamp":1596499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006259","name":"Teva Pharmaceutical Industries","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006259","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    COG6\u2010congenital disorder of glycosylation (COG6\u2010CDG) is caused by biallelic mutations in\n                    <jats:italic>COG<\/jats:italic>\n                    6. To\u2010date, 12 variants causing COG6\u2010CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel homozygous deletion of 26\u2009bp in\n                    <jats:italic>COG6<\/jats:italic>\n                    , creating a splicing variant (c.518_540 +\u20093del) and a shift in the reading frame. The phenotype of COG6\u2010CDG includes growth and developmental retardation, microcephaly, liver and gastrointestinal disease, hypohydrosis and recurrent infections. We report two patients with novel phenotypic features including bowel malrotation and ambiguous genitalia, directing attention to the role of glycoprotein metabolism in the causation of disorders of sex development (DSD). Searching the glycomic literature, we identified 14 CDGs including males with DSD, a feature not previously accentuated. This study broadens the genetic and phenotypic spectrum of COG6\u2010CDG and calls for increasing awareness to the central role of glycosylation processes in development of human sex and genitalia.\n                  <\/jats:p>","DOI":"10.1111\/cge.13816","type":"journal-article","created":{"date-parts":[[2020,7,19]],"date-time":"2020-07-19T01:53:16Z","timestamp":1595123596000},"page":"402-407","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<scp>COG6\u2010CDG<\/scp>\n                    : Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development"],"prefix":"10.1111","volume":"98","author":[{"given":"Hanna","family":"Mandel","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nehama","family":"Cohen Kfir","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"},{"name":"Azrieli Faculty of Medicine Bar\u2010Ilan University  Safed Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayalla","family":"Fedida","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"},{"name":"Azrieli Faculty of Medicine Bar\u2010Ilan University  Safed Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efrat","family":"Shuster Biton","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Odeh","sequence":"additional","affiliation":[{"name":"Ultra\u2010Sound Unit Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Limor","family":"Kalfon","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shani","family":"Ben\u2010Harouch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vered","family":"Fleischer Sheffer","sequence":"additional","affiliation":[{"name":"NICU Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoav","family":"Hoffman","sequence":"additional","affiliation":[{"name":"PICU Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Goldberg","sequence":"additional","affiliation":[{"name":"Ultrasound Unit Carmel Medical Center  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"April","family":"Dinwiddie","sequence":"additional","affiliation":[{"name":"Diagnostics Department Center for Genomics and Transcriptomics (CeGaT) GmbH and Practice for Human Genetics  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Dumin","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Laboratory Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayelet","family":"Eran","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, Radiology Department Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liat","family":"Apel\u2010Sarid","sequence":"additional","affiliation":[{"name":"Department of Pathology Galilee Medical Center  Nahariya Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dov","family":"Tiosano","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department Rambam Health Care Campus  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0065-1922","authenticated-orcid":false,"given":"Tzipora C.","family":"Falik\u2010Zaccai","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Galilee Medical Center  Nahariya Israel"},{"name":"Azrieli Faculty of Medicine Bar\u2010Ilan University  Safed Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.10.012"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.13570"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.07.003"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq278"},{"key":"e_1_2_9_6_1","first-page":"103","volume-title":"JIMD Reports","author":"Huybrechts S","year":"2012"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101527"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.04.017"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38358"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2018_88"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103279"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-010-2622-5"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.21.5.0409"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0184139"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2990039"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2019.00503"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021883605280"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.5.552"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104903"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.023"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.009"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000445088"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13816","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13816","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13816","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13816","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T23:31:39Z","timestamp":1693870299000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13816"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,4]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1111\/cge.13816"],"URL":"https:\/\/doi.org\/10.1111\/cge.13816","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13816\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13816\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13816\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13816\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13816\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,4]]},"assertion":[{"value":"2020-06-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}