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목적 : To report clinical characteristics and allele frequency in 6 consecutive LCA patients with known NMNAT1 mutations.
방법 : Children with strictly defined LCA with consecutive known NMNAT1 mutation identified by targeted next generation sequencing (NGS) and a prediction of pathogenicity (in silico) were included in the study. Korean Reference Genome DataBase (KRGDB), Exome aggregation consortium (ExAc) and Exome Variant Server (EVS) were searched to identify allele frequency of known NMNAT1 mutation.
결과 : he c.709C>T, p.Arg237Cys variant in NMNAT1 gene, which was found in all 6 individuals examined, including one heterozygous individual, is known as pathologic variants. Its allele frequency is 0.000074 in the ExAC browser and 0.00031 in EVS browser. However, the c.709C>T, p.Arg237Cys allele frequency is 0.0024 in the Korean Reference Genome Database (KRGDB), which consists of the WGS results for 622 Korean individuals, suggesting that the carrier frequency is relatively common (0.5%) in Korean population. All six patients had macular coloboma-like degeneration in early infancy.
결론 : There may be a high frequency of NMNAT1 mutations and a founder mutation of p.Arg237Cys in Korean population.
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