Development 130, e903-e903 (2003)
Copyright © 2003 The Company of Biologists Limited
A fluid form of deafness
Inner ear defects commonly underlie deafness. The inner ears of
Foxi1-/- deaf/circling mice, as reported on
p. 2013, contain large,
irregular cavities that replace the compartments of the inner ear. This
phenotype, Hulander et al. suggest, is caused by a defect in inner ear fluid
homeostasis that causes the endolymph compartment of the inner ear to expand
and rupture during development. In support of this, they found that
Pds expression is lost in the endolymphatic duct and sac —
structures that reabsorb endolymph — of Foxi1 mutants,
indicating that Foxi1 might be an upstream regulator of Pds.
Pds encodes a chloride/iodide transporter believed to function in
maintaining the ionic composition of endolymph. Moreover, human PDS
mutations cause Pendred syndrome-associated deafness, which the Foxi1
phenotype resembles, leading the authors to suggest that FOXI1
mutations might also underlie other forms of Pendred syndrome-like deafness in
humans.
Related articles in Development:
- Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice
- Malin Hulander, Amy E. Kiernan, Sandra Rodrigo Blomqvist, Peter Carlsson, Emma-Johanna Samuelsson, Bengt R. Johansson, Karen P. Steel, and Sven Enerbäck
Development 2003 130: 2013-2025.
[Abstract]
[Full Text]
