Document Detail

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
MedLine Citation:
PMID:  19646679     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2009-07-30
Journal Detail:
Title:  American journal of human genetics     Volume:  85     ISSN:  1537-6605     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-08-14     Completed Date:  2009-09-23     Revised Date:  2010-09-27    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  273-80     Citation Subset:  IM    
Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA.
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MeSH Terms
Bartter Syndrome / genetics*
Chloride Channels / genetics*
Chromosome Breakage
Chromosome Mapping
Chromosomes, Human, Pair 1
DNA Mutational Analysis
Deafness / genetics*
Genetic Markers
Linkage (Genetics)
Microsatellite Repeats
Middle Aged
Polymorphism, Single Nucleotide
Young Adult
Grant Support
1 Z01 DC000039-12/DC/NIDCD NIH HHS
Reg. No./Substance:
0/BSND protein, human; 0/Chloride Channels; 0/Genetic Markers

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