{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:37Z","timestamp":1785183877341,"version":"3.55.0"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":83,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis (HUPRA syndrome) is a rare autosomal recessive mitochondrial disease with a prevalence of &amp;lt;1:1\u2009000\u2009000, due to variations in the seryl-tRNA synthetase (SARS2) gene encoding SARS on chromosome 19 (19q13.2). This study investigated two Palestinian girls from the same village who presented with progressive renal failure during infancy, with atypical clinical manifestations of HUPRA syndrome including leukopenia, anemia, salt wasting, renal failure, marked hyperuricemia, hypercholesterolemia, hyperlactatemia, and hypertriglyceridemia but without pulmonary hypertension or alkalosis. Instead, they showed acidosis on routine follow-up, distinguishing them from previous cases. Using single whole exome sequencing, we identified two homozygous pathogenic variants in the SARS2 gene (c.1175A&amp;gt;G (p.D392G)) and (c.1169A&amp;gt;G (p.D390G)). These cases with their unique phenotypes, expand the SARS2 pathogenic variant spectrum and describe clinical differences between homozygous and compound heterozygous variants.<\/jats:p>","DOI":"10.1093\/omcr\/omad119","type":"journal-article","created":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T01:14:40Z","timestamp":1706058880000},"source":"Crossref","is-referenced-by-count":2,"title":["Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature"],"prefix":"10.1093","volume":"2023","author":[{"given":"Elias Edward","family":"Lahham","sequence":"first","affiliation":[{"name":"Radiation Oncology Department, Augusta Victoria Hospital , Jerusalem, Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juhina Jamal","family":"Hasassneh","sequence":"additional","affiliation":[{"name":"Beit-Jala Governmental Hospital Pediatric Department, , Bethlehem, Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dua Osamah","family":"Adawi","sequence":"additional","affiliation":[{"name":"Beit-Jala Governmental Hospital Pediatric Department, , Bethlehem, Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad Khaled","family":"Ismail","sequence":"additional","affiliation":[{"name":"Beit-Jala Governmental Hospital Pediatric Department, , Bethlehem, Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,11,28]]},"reference":[{"key":"2024012401143796600_ref1","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2010.12.010","article-title":"Mutations in the mitochondrial Seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome","volume":"88","author":"Belostotsky","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2024012401143796600_ref2","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1007\/s00467-005-1948-z","article-title":"Renal pathology in children with mitochondrial diseases","volume":"20","author":"Mart\u00edn-Hern\u00e1ndez","year":"2005","journal-title":"Pediatr Nephrol"},{"key":"2024012401143796600_ref3","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/ng2013","article-title":"Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation","volume":"39","author":"Scheper","year":"2007","journal-title":"Nat Genet"},{"key":"2024012401143796600_ref4","doi-asserted-by":"crossref","first-page":"5309","DOI":"10.1074\/jbc.REV118.002953","article-title":"When a common biological role does not imply common disease outcomes: disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases","volume":"294","author":"Gonz\u00e1lez-Serrano","year":"2019","journal-title":"J Biol Chem"},{"key":"2024012401143796600_ref5","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00467-011-1926-6","article-title":"Renal involvement in mitochondrial cytopathies","volume":"27","author":"Emma","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"2024012401143796600_ref6","first-page":"41","article-title":"The T616C tRNA(Phe) mutation causes mitochondrially inherited tubulointerstitial kidney disease","volume":"20","author":"Mallett","year":"2015","journal-title":"Nephrology"},{"key":"2024012401143796600_ref7","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s00467-012-2362-y","article-title":"Mitochondrial disease\u2014an important cause of end-stage renal failure","volume":"28","author":"Rahman","year":"2013","journal-title":"Pediatr Nephrol"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2023\/11\/omad119\/53895628\/omad119.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2023\/11\/omad119\/53895628\/omad119.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,24]],"date-time":"2024-01-24T01:14:45Z","timestamp":1706058885000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omad119\/7453326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,1]]},"references-count":7,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omad119","relation":{},"ISSN":["2053-8855"],"issn-type":[{"value":"2053-8855","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,11]]},"published":{"date-parts":[[2023,11,1]]},"article-number":"omad119"}}