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dc.contributor.authorSubaşıoğlu Uzak, Aslı
dc.contributor.authorÇakar, Nilgün
dc.contributor.authorÇomak, Elif
dc.contributor.authorYalçınkaya, Fatoş
dc.contributor.authorTekin, Mustafa
dc.date.accessioned2020-03-24T07:30:40Z
dc.date.available2020-03-24T07:30:40Z
dc.date.issued2013-10-01
dc.identifier.citationSubasioglu Uzak A1, Cakar N, Comak E, Yalcinkaya F, Tekin M. ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families. Ren Fail. 2013;35(9):1281-4. doi: 10.3109/0886022X.2013.824362.tr_TR
dc.identifier.urihttps://doi.org/10.3109/0886022X.2013.824362tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/70753
dc.description.abstractDistal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis. Mutations in ATP6V1B1 cause DRTA associated with sensorineural hearing loss. The objective of this multicenter study is to screen DRTA patients with sensorineural hearing loss for ATP6V1B1 gene mutations and present genotype/phenotype correlation. Clinical data in five unrelated consanguineous families with DRTA and hearing loss were obtained in Turkey. For mutation screening, all coding exons of ATP6V1B1 were PCR-amplified and sequenced from genomic DNA. In our cohort of five families, there were four different homozygous ATP6V1B1 mutations in affected individuals: c.91C>T (p.R31X), c.232G>A (p.G78R), c.497delC (p.T166RfsX9) and c.1155dupC (p.I386HfsX56). Our study shows that rare and family-specific variants in ATP6V1B1 are responsible for DRTA and sensorineural hearing loss syndrome in Turkey. While firm genotype–phenotype correlations are not available, detailed clinical and molecular analyses provide data to be used in genetic counseling.tr_TR
dc.language.isoentr_TR
dc.publisherTaylor & Francistr_TR
dc.relation.isversionof10.3109/0886022X.2013.824362tr_TR
dc.subjectATP6V1B1 genetr_TR
dc.subjectdistal renal tubular acidosistr_TR
dc.subjectsensorineural hearing losstr_TR
dc.subjectfailure to thrivetr_TR
dc.subjectmolecular analysestr_TR
dc.titleATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.tr_TR
dc.typeArticletr_TR
dc.relation.journalRenal Failuretr_TR
dc.contributor.departmentTıp Fakültesitr_TR
dc.contributor.authorID0000-0002-6467-7470tr_TR
dc.identifier.volume35tr_TR
dc.identifier.issue9tr_TR
dc.identifier.startpage1281tr_TR
dc.identifier.endpage1284tr_TR
dc.relation.publicationcategoryMakale - Uluslararası - Editör Denetimli Dergitr_TR
dc.identifier.issn/e-issn1525-6049


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