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목적 : To report a novel missense mutation of fibrillin-1 (FBN1), which is identified in monozygotic twin brothers with isolated ectopia lentis in both eyes.
방법 : Five-year-old monozygotic twin brothers visited our clinic for treatment of amblyopia of both eyes. There was no family history of ocular disorders, in both parents and siblings. Both of them had bilateral lens dislocation with high lenticular astigmatism. After obtaining informed consent, genomic DNA was isolated from the peripheral blood leukocytes. The FBN1 gene was analyzed by direct DNA sequencing.
결과 : We detected a novel heterozygous missense mutation of c.7583G>T (p.Cys2528Phe) in both of them, which has not been previously reported. This mutation was forecasted to be damaging by In-silico analysis (SIFT) and Polyphen-2 analysis.
결론 : This is the first Korean case of FBN1-associated isolated ectopia lentis, confirmed by the presence of a novel missense mutations in the FBN1 gene.
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