Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity
作者： H Kondo
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摘要: Aims: To search for mutations in the frizzled 4 ( FZD4 ) gene patients with familial exudative vitreoretinopathy (FEVR) and to delineate defective associated clinical features. Methods: Direct sequencing following polymerase chain reaction of exons was performed 24 probands FEVR (18 six sporadic), some their families. Clinical symptoms among individuals were assessed. Results: Four novel identified four one sporadic FEVR. Three these missense (M105V, R417Q, G488D) a nonsense change (W319X). M105V, G488D co-segregated disease. None sequence changes found 300 chromosomes from 150 healthy volunteers. The severity involved this study varied, but no patient exhibited rhegmatogenous retinal detachment although pathology is thought be most common type Conclusion: cases autosomal dominant responsible variable manifestations.
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