Display options
Cite
Wang C, Hosono K, Kachi S, et al. Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. Hum Genome Var. 2016;3:16011doi: 10.1038/hgv.2016.11.
Wang, C., Hosono, K., Kachi, S., Suto, K., Nakamura, M., Terasaki, H., Miyake, Y., Hotta, Y., & Minoshima, S. (2016). Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. Human genome variation, 316011. https://doi.org/10.1038/hgv.2016.11
Wang, Chunxia, et al. "Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy." Human genome variation vol. 3 (2016): 16011. doi: https://doi.org/10.1038/hgv.2016.11
Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, Miyake Y, Hotta Y, Minoshima S. Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. Hum Genome Var. 2016 May 26;3:16011. doi: 10.1038/hgv.2016.11. eCollection 2016. PMID: 27274860; PMCID: PMC4880642.
Copy Download .nbib Format: NLM
Share it on

Hum Genome Var. 2016 May 26;3:16011. doi: 10.1038/hgv.2016.11. eCollection 2016.

Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.

Human genome variation

Chunxia Wang, Katsuhiro Hosono, Shu Kachi, Kimiko Suto, Makoto Nakamura, Hiroko Terasaki, Yozo Miyake, Yoshihiro Hotta, Shinsei Minoshima

Affiliations

  1. Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan; Preeminent Medical Photonics Education & Research Center, Department of Photomedical Genomics, Institute for Medical Photonics Research, Hamamatsu University School of Medicine, Shizuoka, Japan; Department of Ophthalmology, the 4th affiliated hospital of China Medical University, Shenyang, China.
  2. Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan; Preeminent Medical Photonics Education & Research Center, Department of Photomedical Genomics, Institute for Medical Photonics Research, Hamamatsu University School of Medicine, Shizuoka, Japan.
  3. Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan; Matsuura eye clinic, Sakae, Ichinomiya, Japan.
  4. Department of Ophthalmology, Hamamatsu University School of Medicine , Shizuoka, Japan.
  5. Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan; Nakamura eye clinic, Nagoya, Japan.
  6. Department of Ophthalmology, Nagoya University School of Medicine , Nagoya, Japan.
  7. Aichi Medical University , Nagakute, Japan.
  8. Preeminent Medical Photonics Education & Research Center, Department of Photomedical Genomics, Institute for Medical Photonics Research, Hamamatsu University School of Medicine , Shizuoka, Japan.

PMID: 27274860 PMCID: PMC4880642 DOI: 10.1038/hgv.2016.11

Abstract

Blue cone monochromacy (BCM) is caused by the lack of expression of the normal proteins encoded by the OPN1LW and OPN1MW genes, resulting in the absence of red and green cone sensitivities. We analyzed two cases of BCM in two different families and identified deletion mutations in the locus control region upstream of the two genes. Deletion breakpoints were determined to an accuracy of one base for both cases.

References

  1. Am J Ophthalmol. 1983 Jun;95(6):741-7 - PubMed
  2. Science. 1986 Apr 11;232(4747):203-10 - PubMed
  3. Ophthalmic Genet. 2008 Mar;29(1):29-32 - PubMed
  4. Clin Genet. 2016 Jan;89(1):82-7 - PubMed
  5. Neuron. 1992 Sep;9(3):429-40 - PubMed
  6. Science. 1986 Apr 11;232(4747):193-202 - PubMed
  7. Am J Hum Genet. 1993 Nov;53(5):987-1000 - PubMed
  8. Hum Genet. 2000 Jul;107(1):75-82 - PubMed
  9. Jpn J Ophthalmol. 1995;39(1):55-9 - PubMed
  10. Mol Vis. 2009;15:876-84 - PubMed
  11. Mol Vis. 1999 Jul 28;5:13 - PubMed
  12. Science. 1989 Aug 25;245(4920):831-8 - PubMed

Publication Types