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Association of ATP7B Mutation Detection Rate with Biochemical Characteristics in Korean Patients with Wilson Disease

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dc.contributor.authorPark, Hyung-Doo-
dc.contributor.authorPark, Hyun-Kyung-
dc.contributor.authorLee, Soo-Youn-
dc.contributor.authorChung, Hae-Sun-
dc.contributor.authorKi, Chang-Seok-
dc.contributor.authorKim, Jong-Won-
dc.identifier.citationANNALS OF CLINICAL AND LABORATORY SCIENCE; Vol.40 1; 15-19ko_KR
dc.description.abstractWilson disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, yet many patients have either one mutation, or no mutation. We investigated whether the mutation detection rate is associated with any biochemical characteristics of WD. In a study of 71 patients, we used PCR-sequencing to screen for ATP7B mutations in 7 exons (exons 8, 10, 11, 14, 15, 16, and 18) covering 95% of known mutations in Korean patients with WD. We also investigated serum concentrations of various biochemical analytes. Data were analyzed by linear association test and one-way ANOVA. Based on the number of detected ATP7B mutations, a significant difference in serum ceruloplasmin concentration was found among the 3 groups (p < 0.001). Serum ceruloplasmin concentration averaged 3.32 +/- 1.74, 10.8 +/- 5.50, and 14.9 +/- 3.88 mg/dl (mean +/- SD) in the 25, 20, and 26 patients with two, one, and no ATP7B mutations, respectively. We observed 82.9% and 16.7% of mutant allele frequency in WD patients with ceruloplasmin concentration < 10 mg/dl and 10-20 mg/dl, respectively (p < 0.001). Thus serum ceruloplasmin concentrations among WD patients differed according to the number of ATP7B mutations detected.ko_KR
dc.subjectWilson diseaseko_KR
dc.subjectATP7B mutationko_KR
dc.titleAssociation of ATP7B Mutation Detection Rate with Biochemical Characteristics in Korean Patients with Wilson Diseaseko_KR
dc.description.citedreferenceRiordan SM, 2001, J HEPATOL, V34, P165-
dc.description.citedreferenceGow PJ, 2000, GUT, V46, P415-
dc.description.citedreferenceBrewer GJ, 2009, NETH J MED, V67, P195-
dc.description.citedreferenceKorman JD, 2008, HEPATOLOGY, V48, P1167, DOI 10.1002/hep.22446-
dc.description.citedreferenceMak CM, 2008, CLIN CHEM, V54, P1356, DOI 10.1373/clinchem.2008.103432-
dc.description.citedreferenceMak CM, 2008, CRIT REV CL LAB SCI, V45, P263, DOI 10.1080/10408360801991055-
dc.description.citedreferencePark S, 2007, HUM MUTAT, V28, P1108, DOI 10.1002/humu.20574-
dc.description.citedreferenceKroll CA, 2006, MOL GENET METAB, V89, P134, DOI 10.1016/j.ymgme.2006.03.008-
dc.description.citedreferenceDurand F, 2001, GUT, V48, P849-
dc.description.citedreferenceYoo HW, 2002, GENET MED, V4, p43S, DOI 10.1097/01.GIM.0000040260.30727.EB-
dc.description.citedreferenceSHIM H, 2003, J NUTR, V133, P1527-
dc.description.citedreferenceRoberts EA, 2003, HEPATOLOGY, V37, P1475, DOI 10.1053/jhep.2003.50252-
dc.description.citedreferenceFerenci P, 2003, LIVER INT, V23, P139-
dc.description.citedreferenceCullen LM, 2003, CLIN GENET, V64, P429-
dc.description.citedreferenceSeo J, 2004, J TURBUL, V5, DOI 10.1088/1468-5248/5/1/015-
dc.description.citedreferenceYANG X, 2005, ZHONGHUA NEI KE ZA Z, V44, P13-
dc.description.citedreferenceBrewer GJ, 2005, J HEPATOL, V42, pS13, DOI 10.1016/j.jhep.2004.11.013-
dc.description.citedreferenceDe Bie P, 2005, J HERED, V96, P803, DOI 10.1093/jhered/esi110-
dc.description.citedreferenceCHOI JS, 2006, KOREAN J LAB MED, V26, P449-
dc.description.citedreferenceKim JH, 2006, J GASTROEN HEPATOL, V21, P588, DOI 10.1111/j.1440-1746.2005.04127.x-
dc.description.citedreferenceEisenbach C, 2007, WORLD J GASTROENTERO, V13, P1711-
dc.description.citedreferenceKenney SM, 2007, HUM MUTAT, V28, P1171, DOI 10.1002/humu.20586-
dc.description.citedreferenceRoberts EA, 2008, HEPATOLOGY, V47, P2089, DOI 10.1002/hep.22261-
dc.description.citedreferenceKok KF, 2008, NETH J MED, V66, P348-
dc.description.citedreferenceBREWER GJ, 2009, NETH J MED, V67, P196-
dc.description.citedreferenceSALLIE R, 1992, HEPATOLOGY, V16, P1206-
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