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

Author

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., and Fahlke, Christoph

Subjects
Deafness -- Genetic aspects, Gene mutations -- Analysis, Human genome -- Research, Hyperaldosteronism -- Genetic aspects, Biological sciences
Abstract

A study analyzes the molecular basis of DFNB73 in order to investigate BSND gene mutations that cause Bartter syndrome type IV, characterized by severe renal abnormalities and deafness. Experiments identify a BSND mutation (p.I12T) which selectively affects barttin functioning and causes nonsyndromic deafness, thereby highlighting that different types of BSND mutations can cause syndromic or nonsyndromic deafness in people with Bartter syndrome.

Published
2009

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