Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

dc.contributor.authorCullinane, Andrew R.
dc.contributor.authorStraatman, Anna Iwanowska
dc.contributor.authorSeo, Jeong K.
dc.contributor.authorKo, Jae S.
dc.contributor.authorSong, Kyung S.
dc.contributor.authorGizewska, Maria
dc.contributor.authorGruszfeld, Dariusz
dc.contributor.authorGliwicz, Dorota
dc.contributor.authorTüysüz, Beyhan
dc.contributor.authorSougrat, Rachid
dc.contributor.authorWakabayashi, Yoshiyuki
dc.contributor.authorHinds, Rupert
dc.contributor.authorBarnicoat, Angela
dc.contributor.authorMandel, Hanna
dc.contributor.authorChitayat, David
dc.contributor.authorFischler, Bjorn
dc.contributor.authorGarcia, Angels Cazorla
dc.contributor.authorKnisely, A. S.
dc.contributor.authorKelly, Deirdre A.
dc.contributor.authorMaher, Eamonn R.
dc.contributor.authorGissen, Paul
dc.contributor.buuauthorErdemir, Gülin
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Gastroenteroloji Hepatoloji ve Beslenme Bilim Dalı.tr_TR
dc.contributor.orcid0000-0002-9726-8219tr_TR
dc.contributor.scopusid36015044400tr_TR
dc.date.accessioned2022-05-10T11:14:10Z
dc.date.available2022-05-10T11:14:10Z
dc.date.issued2009-02
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.en_US
dc.description.sponsorshipChildren's Liver Disease Foundation (CLDF)en_US
dc.description.sponsorshipARC syndrome associationen_US
dc.description.sponsorshipChildren Living with Inherited Metabolic Diseases (CLIMB)en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USAen_US
dc.description.sponsorshipBirmingham Children's Hospital Research Foundation (BCHRF)en_US
dc.identifier.citationCullinane, A. R. vd. (2009). "Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome". Human Mutation, 30(2), E330-E337.en_US
dc.identifier.endpageE337tr_TR
dc.identifier.issn1059-7794
dc.identifier.issue2tr_TR
dc.identifier.pubmed18853461tr_TR
dc.identifier.scopus2-s2.0-64049109733tr_TR
dc.identifier.startpageE330tr_TR
dc.identifier.urihttps://doi.org/10.1002/humu.20900
dc.identifier.urihttps://onlinelibrary.wiley.com/doi/10.1002/humu.20900
dc.identifier.urihttp://hdl.handle.net/11452/26358
dc.identifier.volume30tr_TR
dc.identifier.wos000279979200003tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationYurt dışıtr_TR
dc.relation.journalHuman Mutationen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectArthrogryposisen_US
dc.subjectRenal tubular dysfunctionen_US
dc.subjectNeonatal cholestasisen_US
dc.subjectARCen_US
dc.subjectVesicular trafficking defecten_US
dc.subjectRenal dysfunctionen_US
dc.subjectArthrogryposisen_US
dc.subjectCholestasisen_US
dc.subjectVps33ben_US
dc.subjectMutationen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeVesicular transport proteinen_US
dc.subject.emtreeVPS33B proteinen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeArthrogryposisen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCase reporten_US
dc.subject.emtreeCholestasisen_US
dc.subject.emtreeEthnologyen_US
dc.subject.emtreeFibroblasten_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeInfanten_US
dc.subject.emtreeKidney diseaseen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeMetabolismen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreePreschool childen_US
dc.subject.emtreeSyndromeen_US
dc.subject.emtreeUltrastructureen_US
dc.subject.meshArthrogryposisen_US
dc.subject.meshChild, preschoolen_US
dc.subject.meshCholestasisen_US
dc.subject.meshFibroblastsen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshKidney diseasesen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshSyndromeen_US
dc.subject.meshVesicular transport proteinsen_US
dc.subject.scopusGray Platelet Syndrome; Megakaryocytes; Blood Plateletsen_US
dc.subject.wosGenetics & heredityen_US
dc.titleMolecular investigations to improve diagnostic accuracy in patients with ARC syndrome.en_US
dc.typeArticle
dc.wos.quartileQ1en_US

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