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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.
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© ARVO (1962-2015); The Authors (2016-present)
To identify mutational spectrum of Leber congenital amaurosis (LCA) in 43 unrelated Korean patients
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.
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.
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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