| Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. | |
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MedLine Citation:
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PMID: 19646679 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p.I12T) in four kindreds segregating nonsyndromic deafness linked to a 4.04-cM interval on chromosome 1p32.3. The functional consequences of p.I12T differ from BSND mutations that cause renal failure and deafness in Bartter syndrome type IV. p.I12T leaves chloride channel function unaffected and only interferes with chaperone function of barttin in intracellular trafficking. This study provides functional data implicating a hypomorphic allele of BSND as a cause of apparent nonsyndromic deafness. We demonstrate that BSND mutations with different functional consequences are the basis for either syndromic or nonsyndromic deafness. |
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Authors:
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Saima Riazuddin; Saima Anwar; Martin Fischer; Zubair M Ahmed; Shahid Y Khan; Audrey G H Janssen; Ahmad U Zafar; Ute Scholl; Tayyab Husnain; Inna A Belyantseva; Penelope L Friedman; Sheikh Riazuddin; Thomas B Friedman; Christoph Fahlke |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-07-30 |
Journal Detail:
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Title: American journal of human genetics Volume: 85 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-08-14 Completed Date: 2009-09-23 Revised Date: 2010-09-27 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 273-80 Citation Subset: IM |
Affiliation:
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Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Audiometry Bartter Syndrome / genetics* Chloride Channels / genetics* Chromosome Breakage Chromosome Mapping Chromosomes, Human, Pair 1 DNA Mutational Analysis Deafness / genetics* Female Genetic Markers Haplotypes Homozygote Humans Linkage (Genetics) Male Microsatellite Repeats Middle Aged Mutation* Pedigree Polymorphism, Single Nucleotide Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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1 Z01 DC000039-12/DC/NIDCD NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/BSND protein, human; 0/Chloride Channels; 0/Genetic Markers |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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