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dc.contributor.authorDemosthenous, Panayiotaen
dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorStylianou, Konstantinos G.en
dc.contributor.authorHadjigavriel, Michalisen
dc.contributor.authorArsali, Mariaen
dc.contributor.authorPatsias, Charalambosen
dc.contributor.authorGeorgaki, Elenien
dc.contributor.authorZirogiannis, P.en
dc.contributor.authorStavrou, Christoforos V.en
dc.contributor.authorDaphnis, Eugenios K.en
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:50:31Z
dc.date.available2019-11-04T12:50:31Z
dc.date.issued2012
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53052
dc.description.abstractThe X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension and chronic or end-stage renal disease (ESRD) by adolescence, frequently accompanied by sensorineural deafness and ocular complications. Milder forms of ATS also exist. We studied 42 patients (19M, 23F) of nine Hellenic families suspected clinically of X-linked ATS who presented with marked phenotypic heterogeneity. We identified mutations in COL4A5 in six families. Two males with nonsense mutation E228X reached ESRD by ages 14 and 18. Frameshift mutation 2946delT followed the same course with early onset renal involvement and deafness. However, two males with the milder missense mutation G624D, reached ESRD after 39 years and one patient showed thin basement membrane nephropathy (TBMN). Another 5/8 affected males with missense mutation P628L also developed ESRD between 30 and 57 years, while three exhibit only mild chronic renal failure (CRF). The data support previous findings that certain mutations are associated with milder phenotypes and confirm that mutation G624D may be expressed as TBMN with familial hematuria. Similar conclusions apply for missense mutation P628L. Interestingly, mutations G624D and P628L are near the 12th natural interruption of COL4A5 triple helical domain, which may explain the milder phenotype. © 2011 John Wiley & Sons A/S.en
dc.sourceClinical geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84856464472&doi=10.1111%2fj.1399-0004.2011.01647.x&partnerID=40&md5=aee513ef2906e873cabd48d771370ce0
dc.subjectCyprusen
dc.subjectGreeceen
dc.subjectarticleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectadulten
dc.subjectfemaleen
dc.subjectMiddle Ageden
dc.subjectpriority journalen
dc.subjectclinical articleen
dc.subjectadolescenten
dc.subjectmaleen
dc.subjectinheritanceen
dc.subjecthematuriaen
dc.subjectphenotypeen
dc.subjectgene expressionen
dc.subjectgene mutationen
dc.subjectMutationen
dc.subjectkidney failureen
dc.subjectGenetic Association Studiesen
dc.subjectcollagenen
dc.subjectchronic kidney failureen
dc.subjectCollagen Type IVen
dc.subjectKidney Failure, Chronicen
dc.subjectmissense mutationen
dc.subjectMutation, Missenseen
dc.subjectAlport syndromeen
dc.subjectNephritis, Hereditaryen
dc.subjectphenotypic variationen
dc.subjectAlport Syndrome-ATSen
dc.subjectbasement membraneen
dc.subjectCodon, Nonsenseen
dc.subjectCOL4A5 gene mutationsen
dc.subjectcyclosporinen
dc.subjectESRDen
dc.subjectframeshift mutationen
dc.subjectFSGSen
dc.subjecthearing impairmenten
dc.subjectTBMNen
dc.subjectTriple helix natural interruptionsen
dc.titleX-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5en
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1111/j.1399-0004.2011.01647.x
dc.description.volume81
dc.description.startingpage240
dc.description.endingpage248
dc.type.uhtypeArticleen
dc.source.abbreviationClin.Genet.en


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