Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

@article{Auslender2008FourUF,
  title={Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.},
  author={Noa Auslender and Dikla Bandah and Leah Rizel and Doron M Behar and Mordechai Shohat and Eyal Banin and Stavit Allon-Shalev and Reuven Sharony and Dror Sharon and Tamar Ben-Yosef},
  journal={Genetic testing},
  year={2008},
  volume={12 2},
  pages={289-94}
}
Type 2 Usher syndrome (USH2) is a recessively inherited disorder, characterized by the combination of early onset, moderate-to-severe, sensorineural hearing loss, and vision impairment due to retinitis pigmentosa. From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of neurosensory cells in both retina and cochlea. To date… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-8 of 8 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 22 references

Identification of novel USH2A mutations: implications for the structure of USH2A protein

  • B Dreyer, L Tranebjaerg, T Rosenberg, MD Weston, WJ Kimberling, O Nilssen
  • Eur J Hum Genet
  • 2000
Highly Influential
4 Excerpts

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients

  • E van Wijk, RJ Pennings, +6 authors H Kremer
  • 2004
Highly Influential
4 Excerpts

Development of a genotyping microarray for Usher syndrome

  • JM, T Rosenberg, +5 authors H Kremer
  • J Med Genet
  • 2007

Similar Papers

Loading similar papers…