Article
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
American journal of human genetics - 1 Aug 2009
Riazuddin Saima, Anwar Saima, Fischer Martin, Ahmed Zubair M, Khan Shahid Y, Janssen Audrey G H, Zafar Ahmad U, Scholl Ute, Husnain Tayyab, Belyantseva Inna A, Friedman Penelope L, Riazuddin Sheikh, Friedman Thomas B, Fahlke Christoph
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.