{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T05:43:12Z","timestamp":1779169392028,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,12,26]],"date-time":"2019-12-26T00:00:00Z","timestamp":1577318400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In this report, we describe two cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Genome sequencing failed to identify variants in known disease\u2010associated genes explaining the phenotype. Extended comprehensive analysis of the two affected cousins' genomes, however, revealed that both share the homozygous nonsense variant c.178G&gt;T (p.Glu60*) in the\n                    <jats:italic>VPS26C<\/jats:italic>\n                    gene. This gene encodes VPS26C, a member of the retriever integral membrane protein recycling pathway. The potential vital biological role of VPS26C, the nature of the variant which is predicted to result in loss\u2010of\u2010function, expression studies revealing significant reduction in the mutant transcript, and the co\u2010segregation of the homozygous variant with the phenotype in two affected individuals all support that\n                    <jats:italic>VPS26C<\/jats:italic>\n                    is a novel gene associated with a previously unrecognized syndrome characterized by neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.\n                  <\/jats:p>","DOI":"10.1111\/cge.13690","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T03:01:50Z","timestamp":1576551710000},"page":"644-648","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>VPS26C<\/i>\n                    homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7061-2895","authenticated-orcid":false,"given":"Christian","family":"Beetz","sequence":"first","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najim","family":"Ameziane","sequence":"additional","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ameni","family":"Kdissa","sequence":"additional","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasiliki","family":"Karageorgou","sequence":"additional","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9414-4555","authenticated-orcid":false,"given":"Peter","family":"Bauer","sequence":"additional","affiliation":[{"name":"Centogene AG  Rostock Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0914-7650","authenticated-orcid":false,"given":"Jehan","family":"Suleiman","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Tawam Hospital  Al Ain United Arab Emirates"},{"name":"Department of Pediatrics, College of Medicine and Health Sciences United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5737-5271","authenticated-orcid":false,"given":"Ayman W.","family":"El\u2010Hattab","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, College of Medicine University of Sharjah  Sharjah United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2017.116"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1821-8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.06.009"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb3610"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a016774"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.137.1.79"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2017.10.004"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13221"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.262"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00036-7"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cll.2011.08.003"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20140290"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.05.015"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0412-6"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13690","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13690","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13690","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T03:14:21Z","timestamp":1694056461000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,26]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1111\/cge.13690"],"URL":"https:\/\/doi.org\/10.1111\/cge.13690","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13690\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v2\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13690\/v3\/response1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,26]]},"assertion":[{"value":"2019-08-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}