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Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

ABSTRACT: 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.

SUBMITTER: Riazuddin S

PROVIDER: S-EPMC2725234 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature

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Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Riazuddin Saima S Anwar Saima S Fischer Martin M Ahmed Zubair M ZM Khan Shahid Y SY Janssen Audrey G H AG Zafar Ahmad U AU Scholl Ute U Husnain Tayyab T Belyantseva Inna A IA Friedman Penelope L PL Riazuddin Sheikh S Friedman Thomas B TB Fahlke Christoph C

American journal of human genetics 20090730 2

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 I ...[more]

PMID: 19646679

Dataset Information

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

Publications

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

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