Purchase this article with an account.
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.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
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.
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.
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).
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.
This PDF is available to Subscribers Only