{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:37:19Z","timestamp":1777480639567,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,7]],"date-time":"2013-02-07T00:00:00Z","timestamp":1360195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle. We examined 28 male and 9 female patients from 29 families and identified 25 distinct mutations in <jats:italic> <jats:styled-content style=\"fixed-case\">OTC<\/jats:styled-content><\/jats:italic>, 14 of which were novel. Three novel missense mutations (p.<jats:styled-content style=\"fixed-case\">Ala102Pro<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">Pro158Ser<\/jats:styled-content>, p.<jats:styled-content style=\"fixed-case\">Lys210Glu<\/jats:styled-content>) and a novel deletion of the Leu43 are not directly involved either in the enzyme active site or in the intersubunit interactions; however, the mutations include conserved residues involved in intramolecular interaction network essential for the function of the enzyme. Three novel large deletions \u2013 a 444\u2009kb deletion affecting <jats:italic> <jats:styled-content style=\"fixed-case\">RPGR<\/jats:styled-content><\/jats:italic>, <jats:italic> <jats:styled-content style=\"fixed-case\">OTC<\/jats:styled-content><\/jats:italic> and <jats:italic> <jats:styled-content style=\"fixed-case\">TSPAN7<\/jats:styled-content><\/jats:italic>, a 10\u2009kb\u2010deletion encompassing <jats:italic> <jats:styled-content style=\"fixed-case\">OTC<\/jats:styled-content><\/jats:italic> exons 5 and 6 and a 24.5\u2009kb\u2010deletion encompassing <jats:italic> <jats:styled-content style=\"fixed-case\">OTC<\/jats:styled-content><\/jats:italic> exons 9 and 10 \u2013 have probably been initiated by double strand breaks at recombination\u2010promoting motifs with subsequent non\u2010homologous end joining repair. Finally, we present a manifesting heterozygote carrying a hypomorphic mutation p.<jats:styled-content style=\"fixed-case\">Arg129His<\/jats:styled-content> in combination with unfavorably skewed X\u2010inactivation in three peripheral tissues.<\/jats:p>","DOI":"10.1111\/cge.12085","type":"journal-article","created":{"date-parts":[[2012,12,26]],"date-time":"2012-12-26T18:14:18Z","timestamp":1356545658000},"page":"552-559","source":"Crossref","is-referenced-by-count":9,"title":["Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families"],"prefix":"10.1111","volume":"84","author":[{"given":"G","family":"Storkanova","sequence":"first","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague, and General University Hospital in Prague  Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Vlaskova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague, and General University Hospital in Prague  Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Chuzhanova","sequence":"additional","affiliation":[{"name":"School of Science and Technology Nottingham Trent University  Nottingham NG11 8NS UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Zeman","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine First Faculty of Medicine, Charles University in Prague, and General University Hospital in Prague  Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Stranecky","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague, and General University Hospital in Prague  Czech 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