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dc.contributor.authorAthanasiou, Yiannisen
dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorChatzikyriakidou, Anthoula L.en
dc.contributor.authorIgnatiou, Anastasiaen
dc.contributor.authorDemosthenous, Panayiotaen
dc.contributor.authorElia, Avraamen
dc.contributor.authorZavros, Michalisen
dc.contributor.authorGeorgiou, Ioannis A.en
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:50:14Z
dc.date.available2019-11-04T12:50:14Z
dc.date.issued2015
dc.identifier.issn1945-0265
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/52943
dc.description.abstractBackground and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In the present study, we studied for the first time, genetically and clinically, all the cystinuric families identified so far in the Greek-Cypriot population. Methods: Discovery of mutations was performed through polymerase chain reaction (PCR)-single analysis and DNA resequencing. New families were investigated through PCR-RFLPs. Clinical data were collected through the hospital patients' records and analytical follow-up of the families. Results and Discussion: We found a total of five mutations in 28 Greek-Cypriot cystinuric patients belonging in 12 families. The most frequent mutation among the 28 Greek-Cypriot patients is the SLC3A1-p.T216M, which is also the second most frequent mutation in Europe, representing a genetic founder effect. Sixteen of the 28 patients are homozygous for this mutation. Even though a consanguinity loop was obvious in only one family, other patients were from families in small villages where endogamy was practiced for many centuries. Timely clinical and genetic diagnosis, accompanied by early treatment, is significant for the good health of most of our patients. Only ∼14% of them developed chronic renal failure, and only one reached end-stage renal disease (ESRD). Conclusion: Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patientsen
dc.description.abstracthaving such a limited number of causative mutations will simplify diagnostics for this population. © Copyright 2015, Mary Ann Liebert, Inc.en
dc.sourceGenetic Testing and Molecular Biomarkersen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84947729866&doi=10.1089%2fgtmb.2015.0144&partnerID=40&md5=fdf95efdd0a218e202d4e5fd77319c73
dc.subjectGreeceen
dc.subjectchilden
dc.subjecthumanen
dc.subjectHumansen
dc.subjectadulten
dc.subjectageden
dc.subjectfemaleen
dc.subjectclinical articleen
dc.subjectadolescenten
dc.subjectmaleen
dc.subjectgeneen
dc.subjectgene frequencyen
dc.subjectArticleen
dc.subjectmiddle ageden
dc.subjectgeneticsen
dc.subjectgene mutationen
dc.subjectheterozygosityen
dc.subjectpolymerase chain reactionen
dc.subjectvery elderlyen
dc.subjectschool childen
dc.subjectmutationen
dc.subjectrestriction fragment length polymorphismen
dc.subjectDNA sequenceen
dc.subjectchronic kidney failureen
dc.subjectamino aciden
dc.subjectAged, 80 and overen
dc.subjectAmino Acid Transport Systems, Basicen
dc.subjectAmino Acid Transport Systems, Neutralen
dc.subjectamino acid transporteren
dc.subjectconsanguinityen
dc.subjectcystinuriaen
dc.subjectdna mutational analysisen
dc.subjectend stage renal diseaseen
dc.subjectfounder effecten
dc.subjectGreek (people)en
dc.subjectKidney Failure, Chronicen
dc.subjectpedigreeen
dc.subjectSLC3A1 geneen
dc.subjectSLC3A1 protein, humanen
dc.subjectSLC7A9 geneen
dc.subjectSLC7A9 protein, humanen
dc.titleMolecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Populationen
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1089/gtmb.2015.0144
dc.description.volume19
dc.description.startingpage641
dc.description.endingpage645
dc.type.uhtypeArticleen
dc.source.abbreviationGent.Test.and Mol.Biomarkersen


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