{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:30:04Z","timestamp":1762003804855},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1995,8,15]],"date-time":"1995-08-15T00:00:00Z","timestamp":808444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1996,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Ornithine transcarbamylase (OTC) deficiency, an X\u2010linked inborn error of the urea cycle, is known to be heterogeneous genetically as well as phenotypically. Molecular defects of Korean patients with OTC deficiency have not been reported. To investigate molecular lesions resulting in OTC deficiency, the OTC genes of unrelated symptomatic or asymptomatic female heterozygotes were amplified exon by exon and analysed by direct sequencing of double\u2010stranded DNA. Three new mutations, two missense and one nonsense, were detected: (1) a C\u2010to\u2010T transition in codon 44 in exon 2 replacing a threonine by an isoleucine (T44I) was found in a late\u2010onset symptomatic female patient but not in her asymptomatic mother; (2) a C\u2010to\u2010T transition in codon 214 creating a new<jats:italic>Rsa<\/jats:italic>I recognition site in exon 6 and substituting tyrosine for histidine (H214Y) was identified in an asymptomatic female carrier whose son developed acute neonatal onset of OTC deficiency; (3) a C\u2010to\u2010T transition in codon 320 (arginine) abolishing a<jats:italic>Taq<\/jats:italic>I recognition site and creating a new<jats:italic>BCl<\/jats:italic>I site in exon 9 with generation of a stop codon (R320X) leading to premature termination in the enzyme. This nonsense mutation was found in a symptomatic female patient and her asymptomatic mother whose son died of OTC deficiency during the neonatal period. In addition, we found a G\u2010to\u2010A transition in codon 141 in exon 5 causing substitution of glutamine for arginine (R141Q) in a female obligate heterozygote whose previous three sons succumbed to acute neonatal\u2010onset OTC deficiency. This missense mutation has been described previously and is known to eliminate a<jats:italic>Taq<\/jats:italic>I recognition site in exon 5.<\/jats:p>","DOI":"10.1007\/bf01799346","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:36:43Z","timestamp":1119371803000},"page":"31-42","source":"Crossref","is-referenced-by-count":9,"title":["Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families"],"prefix":"10.1002","volume":"19","author":[{"given":"H.\u2010W.","family":"Yoo","sequence":"first","affiliation":[{"name":"Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Ulsan University College of Medicine  388\u20101 Poongnap\u2010dong, Songpa\u2010ku Seoul 138\u2010040 Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.\u2010H.","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Asan Medical Center Ulsan University College of Medicine  388\u20101 Poongnap\u2010dong, Songpa\u2010ku Seoul 138\u2010040 Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.\u2010H.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Soonchunhyang University Medical Center  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1995,8,15]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"546","article-title":"A strategy to reveal high frequency RFLPs along the human X chromosome","volume":"36","author":"Aldridge J","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02619631"},{"key":"e_1_2_1_4_1","first-page":"1187","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Brusilow 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