{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T16:14:51Z","timestamp":1785255291560,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T00:00:00Z","timestamp":1610582400000},"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":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SCYL1<\/jats:italic> disease results from biallelic pathogenic variants in <jats:italic>SCYL1<\/jats:italic>. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was reviewed. 13\u2010year\u2010old boy and 9\u2010year\u2010old girl siblings had acute liver insufficiency and underwent living related donor liver transplantation in infancy with no genetic diagnosis. Both had tremor, global developmental delay, and cognitive dysfunction during their follow\u2010up in the medical genetic clinic for diagnostic investigations after their liver transplantation. Exome sequencing identified a likely pathogenic variant (c.399delC; p.Asn133Lysfs*136) in <jats:italic>SCYL1<\/jats:italic>. Deletion\/duplication analysis of <jats:italic>SCYL1<\/jats:italic> identified deletions of exons 7\u20138 in Patient 1. Both variants were confirmed in Patient 2 and the diagnosis of <jats:italic>SCYL1<\/jats:italic> disease was confirmed in both patients at the age of 13 and 9\u2009years, respectively. SCYL1 protein was not expressed in both patients' fibroblast using western blot analysis. Sixteen patients with <jats:italic>SCYL1<\/jats:italic> disease reported in the literature. Liver phenotype (<jats:italic>n<\/jats:italic> = 16), neurological phenotype (<jats:italic>n<\/jats:italic> = 13) and skeletal phenotype (<jats:italic>n<\/jats:italic> = 11) were present. Both siblings required liver transplantation in infancy and had variable phenotypes. Exome sequencing may miss the diagnosis and phenotyping of patients can help to diagnose patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62079","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T18:39:46Z","timestamp":1610735986000},"page":"1091-1097","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp><i>SCYL1<\/i><\/scp> disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion\/duplication analysis of <scp><i>SCYL1<\/i><\/scp>"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6185-6177","authenticated-orcid":false,"given":"Vanda","family":"McNiven","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Gattini","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology &amp; Nutrition, Department of Pediatrics University of Toronto, The Hospital for Sick Children, University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iram","family":"Siddiqui","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Toronto, The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Pelletier","sequence":"additional","affiliation":[{"name":"Genome Editing Center, Department of Medical and Molecular Genetics Indiana University School of Medicine, Purdue University  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herbert","family":"Brill","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology &amp; Nutrition, Department of Pediatrics McMaster Children's Hospital, McMaster University  Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaron","family":"Avitzur","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology &amp; Nutrition, Department of Pediatrics University of Toronto, The Hospital for Sick Children, University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8396-6764","authenticated-orcid":false,"given":"Saadet","family":"Mercimek\u2010Andrews","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics University of Toronto, The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Medical Genetics University of Alberta, Stollery Children's Hospital, Alberta Health Services  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2020.01.003"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0178680"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2282-17.2018"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.260"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v7.i4.494"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4781(00)00234-7"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1787-12.2012"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7401001"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.10.011"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0268-2"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23183"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0389-6"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cld.2018.06.009"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62079","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:40:58Z","timestamp":1693215658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,14]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1002\/ajmg.a.62079"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62079","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,14]]},"assertion":[{"value":"2020-11-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}