ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

Simple item page
dc.contributor.authorSubaşıoğlu Uzak, Aslı
dc.contributor.authorÇakar, Nilgün
dc.contributor.authorÇomak, Elif
dc.contributor.authorYalçınkaya, Fatoş
dc.contributor.authorTekin, Mustafa
dc.contributor.authorIDhttps://orcid.org/0000-0002-1853-0101tr_TR
dc.contributor.departmentTıp Fakültesitr_TR
dc.date.accessioned2020-03-20T09:52:28Z
dc.date.available2020-03-20T09:52:28Z
dc.date.issued2013-10
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.91C4T (p.R31X), c. 232G4A (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.identifier.citationSubasioglu Uzak A, Cakar N, Comak E, Yalcinkaya F, Tekin M. ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss:clinical and genetic spectrum of five families. Ren Fail. 2013 Oct;35(9):1281-4. doi: 10.3109/0886022X.2013.824362.tr_TR
dc.identifier.endpage1284tr_TR
dc.identifier.issn/e-issn1525-6049
dc.identifier.issue35tr_TR
dc.identifier.other5tr_TR
dc.identifier.startpage1281tr_TR
dc.identifier.urihttps://doi.org/10.3109/0886022X.2013.824362.tr_TR
dc.identifier.urihttp://hdl.handle.net/20.500.12575/70741
dc.identifier.volume9tr_TR
dc.language.isoentr_TR
dc.publisherInforma Healthcaretr_TR
dc.relation.isversionof10.3109/0886022X.2013.824362.
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıtr_TR
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectDistal renal tubular acidosistr_TR
dc.subjectHearing losstr_TR
dc.titleATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five familiestr_TR
dc.title.alternativeRen Fail. 2013 October ; 35(9): 1281–1284.tr_TR
dc.typeArticletr_TR

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss clinical and genetic spectrum of five families.pdf
Size:
219.17 KB
Format:
Adobe Portable Document Format
Description:
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.62 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

Makale