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Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

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dc.contributor.authorCullinane, Andrew R.-
dc.contributor.authorStraatman-Iwanowska, Anna-
dc.contributor.authorSeo, Jeong K.-
dc.contributor.authorKo, Jae S.-
dc.contributor.authorGizewska, Maria-
dc.contributor.authorGliwicz, Dorota-
dc.contributor.authorErdemir, Gulin-
dc.contributor.authorWakabayashi, Yoshiyuki-
dc.contributor.authorBarnicoat, Angela-
dc.contributor.authorGissen, Paul-
dc.contributor.authorMaher, Eamonn R.-
dc.contributor.authorKelly, Deirdre A.-
dc.contributor.authorKnisely, A. S.-
dc.contributor.authorGarcia-Cazorla, Angels-
dc.contributor.authorFischler, Bjorn-
dc.contributor.authorChitayat, David-
dc.contributor.authorMandel, Hanna-
dc.contributor.authorHinds, Rupert-
dc.contributor.authorSougrat, Rachid-
dc.contributor.authorTuysuz, Beyhan-
dc.contributor.authorGruszfeld, Dariusz-
dc.contributor.authorSong, Kyung S.-
dc.date.accessioned2012-06-12T04:33:33Z-
dc.date.available2012-06-12T04:33:33Z-
dc.date.issued2009-02-
dc.identifier.citationHUMAN MUTATION; Vol.30 2; E330-E337ko_KR
dc.identifier.issn1059-7794-
dc.identifier.urihttps://hdl.handle.net/10371/76995-
dc.description.abstractArthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B. The detection of germline VPS33B mutations removes the need for diagnostic organ biopsies (these carry a >50% risk of life-threatening haemorrhage due to platelet dysfunction); however, VPS33B mutations are not detectable in similar to 25% of patients. In order further to define the molecular basis of ARC we performed mutation analysis and mRNA and protein studies in patients with a clinical diagnosis of ARC. Here we report novel mutations in VPS33B in patients from Eastern Europe and South East Asia. One of the mutations was present in 7 unrelated Korean patients. Reduced expression of VPS33B and cellular phenotype was detected in fibroblasts from patients clinically diagnosed with ARC with and without known VPS33B mutations. One mutation-negative patient was found to have normal mRNA and protein levels. This patient`s clinical condition improved and he is alive at the age of 2.5 years. Thus we show that all patients with a classical clinical course of ARC had decreased expression of VPS33B whereas normal VPS33B expression was associated with good prognosis despite initial diagnosis of ARC. (C) 2008 Wiley-Liss, Inc.ko_KR
dc.language.isoenko_KR
dc.publisherWILEY-LISSko_KR
dc.subjectarthrogryposisko_KR
dc.subjectneonatal cholestasisko_KR
dc.subjectvesicular trafficking defectko_KR
dc.subjectARCko_KR
dc.subjectrenal tubular dysfunctionko_KR
dc.titleMolecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndromeko_KR
dc.typeArticleko_KR
dc.identifier.doi10.1002/humu.20900-
dc.citation.journaltitleHUMAN MUTATION-
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dc.description.tc4-
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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