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목적 : To evaluate the application value of next generation sequencing (NGS) in the diagnosis of Leber congenital amaurosis (LCA).
방법 : Genomic DNA was extracted using standard procedure from peripheral venous blood of 11 patients with suspected LCA collected from ophthalmology clinic of Yonsei University Severance Hospital between June 2015 and January 2016. Targeted NGS with Trusight one panel based on MiSeq platform (llumina, Inc., San Diego, CA) was conducted to capture and sequence 4813 nuclear genes related to human disease phenotypes.
결과 : Among 11 children, 9 had detectable causative recessive or dominant mutations of known LCA genes, and these were in one of five genes only: 3 in NMNAT1, 2 in RPGRIP1, 2 in GUCY2D, 1 in CEP290 and 1 in CRX. All three patient exhibited central macular atrophy had NMNAT1 mutation. A patient with CRX mutations harbored heterozygous c.442delG (p.Gly148AlafsTer39) mutation. Two patients had no detectable mutations in 21 known LCA genes. Among these two patients, one had mitochondrial aconitase 2 (ACO2) mutation and the other had OPN1SW mutation.
결론 : NGS has a certain application value in the diagnosis of LCA or LCA-like neurological disorder. Further experimental research is needed to clarify the role of ACO2 and OPN1SW gene.
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