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Identification of novel mutations in the human ornithine transcarbamylase ( OTC ) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro
Author(s) -
Kim GuHwan,
Choi JinHo,
Lee HyungHaon,
Park Sangwook,
Kim SungSu,
Yoo HanWook
Publication year - 2006
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9465
Subject(s) - ornithine transcarbamylase , ornithine transcarbamylase deficiency , missense mutation , biology , urea cycle , mutant , genetics , mutation , gene , microbiology and biotechnology , compound heterozygosity , phenotype , allele , genotype , ornithine carbamoyltransferase , arginine , ornithine , amino acid
The urea cycle plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle, which is inherited in an X‐linked manner. This study was undertaken to characterize molecular defects in Korean patients with OTC deficiency. With direct sequence analysis of OTC gene of 26 unrelated Korean patients with OTC deficiency, 23 different mutations were identified. Among these mutations, eleven were novel mutations. The novel mutations were p.Leu9X, p.Arg26Pro, p.Gly100Arg, p.Met205Thr, p.Lys221Asn, p.Asp249Gly, p.Phe281Ser, p.Val323Met, c.571delC, c.853delC, and c.796‐805del. All the novel mutations in this study were tested in 100 normal alleles. In vitro expression study of some of novel missense mutations elucidated the correlation of genotype and phenotype of the OTC deficiency. © 2006 Wiley‐Liss, Inc.