June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis
Author Affiliations & Notes
  • Tomoka Kambe
    Ophthalmology, Saitama Children's Medical Center, Saitama, Japan
  • Takuro Fujimaki
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Shuri Kawamorita
    Japanese Red Cross Medical Center, Tokyo, Japan
  • Eisuke Arai
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
    The Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
  • Ai Miyazaki
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Keiko Fujiki
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Fumino Iwata
    Hatanodai Iwata Eye Clinic, Tokyo, Japan
  • Chieko Tamura
    Kiba Park Clinic, Tokyo, Japan
  • Akira Murakami
    Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
  • Footnotes
    Commercial Relationships Tomoka Kambe, None; Takuro Fujimaki, None; Shuri Kawamorita, None; Eisuke Arai, None; Ai Miyazaki, None; Keiko Fujiki, None; Fumino Iwata, None; Chieko Tamura, None; Akira Murakami, SEED(Japan) JP4855782 (P), SEED(Japan) JP5132958 (P)
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1312. doi:https://doi.org/
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      Tomoka Kambe, Takuro Fujimaki, Shuri Kawamorita, Eisuke Arai, Ai Miyazaki, Keiko Fujiki, Fumino Iwata, Chieko Tamura, Akira Murakami; NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1312. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: Leber congenital amaurosis (LCA) is a group of early-onset childhood retinal dystrophies characterized by loss of vision, nystagmus, and severe retinal dysfunction. Two-thirds of autosomal recessive LCA cases are caused by mutations in 17 known disease-associated genes. Here we report on NMNAT1 gene analysis in two cases of early-onset macular dystrophy and suspected LCA.

Methods: The first subject was a four-month-old proband with nystagmus. Several sites of retinal pigment disruption and atrophic changes of the macula were found. The second subject was also a four-month-old proband with nystagmus and similar fundus findings. Both marriages were not consanguineous. Genomic DNA was extracted from peripheral blood leukocytes of the two subjects according to standard procedures, after obtaining informed consent. We amplified the coding regions of 17 AR-LCA genes from the genomic DNA of the patients by PCR, while two micro-arrays and the dye terminator method were used for sequencing.

Results: A homozygous missense mutation (c.709C>T, p.Arg237Cys) of NMNAT1 was detected in both probands. This mutation has been reported in Mongoloid patients by Chiang et al. (Nat Genet., 2012).

Conclusions: We detected the homozygous mutation p.Arg237Cys in the NMNAT1 gene of two unrelated probands by screening of 17 genes associated with LCA in Japanese patients. This may be a characteristic mutation of Mongoloid AR-LCA.

Keywords: 696 retinal degenerations: hereditary • 539 genetics  
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