Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations

@article{Nakanishi2011NovelUM,
  title={Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations},
  author={Hiroshi Katayama-Yoshida A. Nakanishi and Masafumi Ohtsubo and Satoshi Iwasaki and Yoshihiro Hotta and Shin-Ichi Usami and Kunihiro Mizuta and Hiroyuki Mineta and Shinsei Minoshima},
  journal={Journal of Human Genetics},
  year={2011},
  volume={56},
  pages={484-490}
}
Usher syndrome (USH) is an autosomal recessive disorder characterized by retinitis pigmentosa and hearing loss. USH type 2 (USH2) is the most common type of USH and is frequently caused by mutations in USH2A. In a recent mutation screening of USH2A in Japanese USH2 patients, we identified 11 novel mutations in 10 patients and found the possible frequent mutation c.8559-2A>G in 4 of 10 patients. To obtain a more precise mutation spectrum, we analyzed further nine Japanese patients in this study… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 10 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 33 REFERENCES

Four USH 2 A founder mutations underlie the majority of Usher syndrome type 2 cases among nonAshkenazi Jews

  • N. Auslender, D. Bandah, L. Rizel, D. M. Behar, M. Shohat, E. Banin
  • Genet . Test
  • 2008

Similar Papers

Loading similar papers…