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dc.contributor.authorBoteva, Kalinaen
dc.contributor.authorPapageorgiou, Elenaen
dc.contributor.authorGeorgiou, Christinaen
dc.contributor.authorAngastiniotis, Michael A.en
dc.contributor.authorMiddleton, Lefkos T.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.creatorBoteva, Kalinaen
dc.creatorPapageorgiou, Elenaen
dc.creatorGeorgiou, Christinaen
dc.creatorAngastiniotis, Michael A.en
dc.creatorMiddleton, Lefkos T.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.description.abstractCyprus is an island in the eastern Mediter-ranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful scientific study had ever been done the impression was that CF was extremely rare among the Greek-Cypriots, with an incidence estimated at around 1:30,000. About 2 years ago, we introduced molecular diagnostic methodology in an effort to assist clinicians in safer diagnosis of patients presenting with atypical CF symptomatology, and also for testing the hypothesis that mutations that cause milder phenotypes might be responsible for misdiagnosis or for missing entirely some cases of CF. Initial screening for ΔF508 revealed that it is indeed rare in the general population. Further screening of suspected CF patients revealed a novel mutation that converted leucine at position 346 to proline (L346P) in two unrelated families. The second CF mutation was ΔF508 and 1677delTA in the two families respectively, both reportedly associated with severe phenotypes. Yet our patients did not present with typical CF pictures possibly because of the dominant nature of this novel mild mutation in exon 7. Symptoms included failure to thrive, chest infections and electrolyte disturbances. These findings raise the possibility that Cyprus might have been spared very severe CF phenotypes but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. © 1994 Springer-Verlag.en
dc.sourceHuman geneticsen
dc.subjectpriority journalen
dc.subjectelectrolyte disturbanceen
dc.subjectdisease severityen
dc.subjectBase Sequenceen
dc.subjectgene mutationen
dc.subjectMolecular Sequence Dataen
dc.subjectDNA Primersen
dc.subjectrespiratory tract infectionen
dc.subjectPolymerase Chain Reactionen
dc.subjectMembrane Proteinsen
dc.subjectDNA Mutational Analysisen
dc.subjectPoint Mutationen
dc.subjectamino acid substitutionen
dc.subjectcystic fibrosisen
dc.subjectCystic Fibrosis Transmembrane Conductance Regulatoren
dc.subjectfailure to thriveen
dc.subjectIon Channelsen
dc.subjecttransmembrane conductance regulatoren
dc.titleNovel cystic fibrosis mutation associated with mild disease in Cypriot patientsen
dc.description.endingpage532Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied SciencesΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.description.notes<p>Cited By :5</p>en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

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