{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T12:51:41Z","timestamp":1791550301132,"version":"4.3.4"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T00:00:00Z","timestamp":1711670400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Exome sequencing (ES) has identified biallelic\n                    <jats:italic>kinesin family member 12<\/jats:italic>\n                    (\n                    <jats:italic>KIF12<\/jats:italic>\n                    ) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pediatric patients at our centers, diagnostic ES identified 4 patients with novel, biallelic\n                    <jats:italic>KIF12<\/jats:italic>\n                    variants using the human GRCh38 reference sequence, as\n                    <jats:italic>KIF12<\/jats:italic>\n                    remains incompletely annotated in the older reference sequence GRCh37. A review of these and of 21 reported patients with\n                    <jats:italic>KIF12<\/jats:italic>\n                    variants found that presentation with elevated serum transaminase activity in the context of trivial respiratory infection, without clinical features of liver disease, was more common (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200918) than manifest cholestatic disease progressing rapidly to liver transplantation (LT;\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20097). Onset of liver disease was at age\u2009&lt;1\u2009year in 15 patients; LT was more common in this group. Serum gamma\u2010glutamyl transpeptidase activity (GGT) was elevated in all patients, and total bilirubin was elevated in 15 patients. Liver fibrosis or cirrhosis was present in 14 of 18 patients who were biopsied. The 16 different pathogenic variants and 11 different KIF12 genotypes found were not correlated with age of onset or progression to LT. Identification of biallelic pathogenic\n                    <jats:italic>KIF12<\/jats:italic>\n                    variants distinguishes KIF12\u2010related disease from other entities with elevated GGT.\n                  <\/jats:p>","DOI":"10.1111\/cge.14524","type":"journal-article","created":{"date-parts":[[2024,3,30]],"date-time":"2024-03-30T02:56:54Z","timestamp":1711767414000},"page":"224-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>\n                      <i>Kinesin family member 12<\/i>\n                    <\/scp>\n                    \u2010related hepatopathy: A generally indolent disorder with elevated gamma\u2010glutamyl\u2010transferase activity"],"prefix":"10.1111","volume":"106","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2515-4490","authenticated-orcid":false,"given":"Georg\u2010Friedrich","family":"Vogel","sequence":"first","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck Austria"},{"name":"Institute of Cell Biology Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Podpeskar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar","family":"Rieder","sequence":"additional","affiliation":[{"name":"Division of Bioinformatics Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helin","family":"Salzer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Garczarczyk\u2010Asim","sequence":"additional","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kuerbanjiang","family":"Abuduxikuer","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian\u2010She","family":"Wang","sequence":"additional","affiliation":[{"name":"The Center for Pediatric Liver Diseases Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"Scharrer","sequence":"additional","affiliation":[{"name":"Department of Pathology Medical University Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eissa Ali","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics, King Fahad Medical City Children's Specialist Hospital  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali T.","family":"Aseeri","sequence":"additional","affiliation":[{"name":"Section of Gastroenterology and Hepatology, King Fahad Medical City Children's Specialist Hospital  Riyadh Kingdom of Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8087-7026","authenticated-orcid":false,"given":"Julia","family":"Vodopiutz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Heilos","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Gastroenterology Medical University Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Pichler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Gastroenterology Medical University Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf\u2010Dietrich","family":"Huber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Gastroenterology Medical University Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. S.","family":"Knisely","sequence":"additional","affiliation":[{"name":"Diagnostik\u2010 und Forschungsinstitut f\u00fcr Pathologie Medizinische Universit\u00e4t Graz  Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-0315","authenticated-orcid":false,"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Paediatrics I Medical University of Innsbruck  Innsbruck Austria"},{"name":"Division of Human Genetics Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics12051169"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12111837"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12072\u2010023\u201010553\u20106"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep4.1320"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100288\u2010x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.580484"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2021.09.019"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14444"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0135678"},{"key":"e_1_2_9_11_1","unstructured":"project TG\u2010TEG.Data Source: GTEx Analysis Release V8. 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