| International FP-004 |
| Molecular analysis of the LRP5, FZD4, and TSPAN12 genes in Korean children with familial exudative vitreoretinopathy |
| Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, the Catholic University of Korea, Seoul, Korea(1), Department of Laboratory Medicine, College of Medicine, the Catholic University of Korea, Seoul, Korea(2) |
| Yoo Yeon Park(1), Ye Jin Ahn(1), Sun Young Shin(1), Hyo Jin Chae(2), Myung Shin Kim(2), Shin Hae Park(1) |
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Purpose : To identify the underlying genetic defects in Korean children with familial exudative vitreoretinopathy (FEVR).
Methods : Genomic DNA was isolated from peripheral blood leukocytes of nine children from seven unrelated families with clinical diagnosis of FEVR. Direct sequencing for whole exons including intron-exon boundaries were done for genes FZD4, LRP5, and TSPAN12.
Results : Three children were found to have previously reported missense mutations of c.3853G>A (p.Glu1285Lys), and c.4619C>T (p.Thr1540Met) in the LRP5 gene.[1] Two children had heterozygous mutations in the FZD 4 gene, one a missense mutation of c.205C>T (p.His69Tyr)[2], and the other frameshifting mutation of c.73delC (p.Leu25Cysfs*36), which is a novel mutation. No pathogenic mutations were identified in the TSPAN12 gene. The phenotypes of the children with the mutations showed great variability.
Conclusion : Two missense mutations in LRP5 gene, one missense mutation and one novel frameshifting mutation in FDZ4 gene were identified among Korean FEVR children, which expands the mutational spectrum of FEVR. Our findings provide additional information on the complexity of FEVR mutations and phenotypes in Korean children with FEVR.
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