July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
NMNAT1 is the most frequently mutated gene in Leber congenital amaurosis in South Korea
Author Affiliations & Notes
  • Dongheon Surl
    Ophthalmology, Severance hospital, Seoul, Korea (the Republic of)
  • Junwon Lee
    Ophthalmology, Severance hospital, Seoul, Korea (the Republic of)
  • Suk Ho Byeon
    Ophthalmology, Severance hospital, Seoul, Korea (the Republic of)
  • Christopher Seungkyu Lee
    Ophthalmology, Severance hospital, Seoul, Korea (the Republic of)
  • Jinu Han
    Ophthalmology, Severance hospital, Seoul, Korea (the Republic of)
  • Footnotes
    Commercial Relationships   Dongheon Surl, None; Junwon Lee, None; Suk Ho Byeon, None; Christopher Lee, None; Jinu Han, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 422. doi:https://doi.org/
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      Dongheon Surl, Junwon Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han; NMNAT1 is the most frequently mutated gene in Leber congenital amaurosis in South Korea. Invest. Ophthalmol. Vis. Sci. 2019;60(9):422. doi: https://doi.org/.

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

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Abstract

Purpose : To identify mutational spectrum of Leber congenital amaurosis (LCA) in 43 unrelated Korean patients

Methods : A retrospective case series was conducted in 43 unrelated, consecutive patients with LCA who underwent genetic testing between June 1, 2015 and October 31, 2018. Next-generation sequencing analysis was performed using a target panel that included 113 genes (n=27) or 429 gene (n=11) or whole exome sequencing (n=5). Variants were filtered and prioritized by in-depth clinical review, and finally classified according to the American College of Medical Genetics and Genomics guidelines.

Results : All patients were of a single ethnicity (Korean). Genetic variants that were highly likely to be causative were identified in 36 of the 43 patients, corresponding to a molecular diagnostic yield of 83.7%. Among 36 patients, 9 were NMNAT1, 7 were GUCY2D, 6 were RPGRIP1, and 5 patients were CEP290. NMNAT1 c.709C>T:p.Arg237Cys variant was detected in all 9 patients, including 1 homozygous patient. The minor allele frequency of c.709C>T in NMNAT1 was higher in South Korea (MAF=0.0010, n=3818) than all population (MAF=0.0000495, n=282780) in gnome aggregation dataset.

Conclusions : NMNAT1 is the most frequently mutated gene in patients with LCA in South Korea. On East Aisa, LCA is frequently from recessive NMNAT1 mutations, most of which are a founder c.709C>T mutation.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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