Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

@article{Khan2007MutationsOT,
  title={Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.},
  author={Shahid Yar Khan and Z M Ahmed and Muhammad I. Shabbir and Shin-ichiro Kitajiri and Saeeda Kalsoom and Saba Tasneem and Sara Shayiq and Arabandi Ramesh and Srikumari Srisailpathy and Shaheen N. Khan and Richard J. H. Smith and Saima Riazuddin and Thomas B Friedman and S. Amer Riazuddin},
  journal={Human mutation},
  year={2007},
  volume={28 5},
  pages={417-23}
}
Ezrin, radixin, and moesin are paralogous proteins that make up the ERM family and function as cross-linkers between integral membrane proteins and actin filaments of the cytoskeleton. In the mouse, a null allele of Rdx encoding radixin is associated with hearing loss as a result of the degeneration of inner ear hair cells as well as with hyperbilirubinemia due to hepatocyte dysfunction. Two mutant alleles of RDX [c.1732G>A (p.D578N) and c.1404_1405insG (p.A469fsX487)] segregating in two… CONTINUE READING