Molecular characterization of cystinuria in south-eastern European countries

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dc.contributor.authorPopovska-Jankovic K.
dc.contributor.authorTasic V.
dc.contributor.authorBogdanovic R.
dc.contributor.authorMiljkovic P.
dc.contributor.authorGolubovic E.
dc.contributor.authorSoylu A.
dc.contributor.authorSaraga M.
dc.contributor.authorPavicevic S.
dc.contributor.authorBaskin E.
dc.contributor.authorAkil I.
dc.contributor.authorGregoric A.
dc.contributor.authorLilova M.
dc.contributor.authorTopaloglu R.
dc.contributor.authorSukarova Stefanovska E.
dc.contributor.authorPlaseska-Karanfilska D.
dc.date.accessioned2024-07-22T08:18:29Z
dc.date.available2024-07-22T08:18:29Z
dc.date.issued2013
dc.description.abstractCystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c.1048-1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families. © 2012 Springer-Verlag Berlin Heidelberg.
dc.identifier.DOI-ID10.1007/s00240-012-0531-x
dc.identifier.issn14340879
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/17314
dc.language.isoEnglish
dc.subjectAmino Acid Transport Systems, Basic
dc.subjectAmino Acid Transport Systems, Neutral
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectCystinuria
dc.subjectEurope
dc.subjectFemale
dc.subjectGenotype
dc.subjectHumans
dc.subjectMale
dc.subjectMutation
dc.subjectarginine
dc.subjectcysteine
dc.subjectgenomic DNA
dc.subjectlysine
dc.subjectornithine
dc.subjectAlbanian
dc.subjectallele
dc.subjectarticle
dc.subjectchild
dc.subjectchromosome
dc.subjectcontrolled study
dc.subjectcost effectiveness analysis
dc.subjectcystinuria
dc.subjectdiagnostic test accuracy study
dc.subjectethnic group
dc.subjectEurope
dc.subjectexon
dc.subjectfemale
dc.subjectgene
dc.subjectgene deletion
dc.subjectgene mutation
dc.subjectgene sequence
dc.subjectgenetic screening
dc.subjectgenotype phenotype correlation
dc.subjectheterozygosity
dc.subjecthomozygosity
dc.subjecthuman
dc.subjectMacedonian
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmolecular biology
dc.subjectpopulation genetics
dc.subjectprenatal diagnosis
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjectprophylaxis
dc.subjectrestriction fragment length polymorphism
dc.subjectscoring system
dc.subjectsensitivity and specificity
dc.subjectsex difference
dc.subjectsingle strand conformation polymorphism
dc.subjectSLC3A1 gene
dc.subjectSLC7A9 gene
dc.subjectchromosome analysis
dc.subjectcystinuria
dc.subjectrestriction fragment length polymorphism
dc.subjectsequence analysis
dc.subjectsingle strand conformation polymorphism
dc.titleMolecular characterization of cystinuria in south-eastern European countries
dc.typeArticle

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