Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome

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dc.authorid0000-0001-9317-8155en_US
dc.authorid0000-0002-2408-5294en_US
dc.authorid0000-0002-1690-3170en_US
dc.authorid0000-0003-3517-6316
dc.contributor.authorTuğ, Esra
dc.contributor.authorPerçin, Ferde Emriye
dc.contributor.authorPala, Elif
dc.contributor.authorBaysoy, Gökhan
dc.date.accessioned2021-06-23T19:28:32Z
dc.date.available2021-06-23T19:28:32Z
dc.date.issued2011
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractLinkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome: Background: Alport syndrome (AS) is a renal disease that is characterized by proteinuria and progressive renal failure, and often accompanied by sensorineural hearing loss and ocular changes. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. We describe a large Turkish family with X-linked AS. We performed linkage analysis in this family and sequencing to identify the mutation in the proband whose disease was confirmed by renal biopsy. Methods: After genomic DNAs extracted, linkage to the COL4A5 locus was examined using the 2B6 and 2B20, DXS1106, DXS1105 and COL4A5 markers. In addition, COL4A5 gene sequence analysis was performed in the proband Results: Genetic linkage analysis demonstrated co-segregation of the disease. Haplotype analysis showed that the same haplotype was carried by all affected males and obligatory carrier females. Mutation analysis of the proband has revealed a novel nonsense mutation (c.1135C>T; Gln379X) in exon 19 of the COL4A5 gene which may lead to a more severe phenotype in affected family members carrying this mutation. According to GenBank data base, this mutation has not been reported previously. Conclusion: Genetic testing identified a previously undescribed COL4A5 mutation as the cause of the disease.en_US
dc.identifier.endpage153en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.pmid21848006en_US
dc.identifier.scopus2-s2.0-79960806729en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage143en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12491/7033
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/21848006/
dc.identifier.volume22en_US
dc.identifier.wosWOS:000293046500003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorTuğ, Esra
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAlport Syndromeen_US
dc.subjectType IV Collagenen_US
dc.subjectCOL4A5 Geneen_US
dc.subjectLinkage Analysisen_US
dc.subjectNovel Nonsense Mutation (c.1135C > T Gln379X) in Exon 19en_US
dc.titleLinkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndromeen_US
dc.typeArticleen_US

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