Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity
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منابع مشابه
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.
AIMS To search for mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) and to delineate the defective gene associated clinical features. METHODS Direct sequencing following polymerase chain reaction of exons of FZD4 was performed for 24 probands with FEVR (18 familial and six sporadic), and some of their families. Clinical symptoms among indivi...
متن کاملNovel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.
OBJECTIVES To search for mutations in the Frizzled-4 gene (FZD4) in Chinese patients with familial exudative vitreoretinopathy (FEVR) and to delineate the mutation-associated clinical features. METHODS Forty-eight Chinese patients with FEVR and 100 unrelated control subjects were recruited and had complete ophthalmic examinations performed. The coding regions of FZD4 were screened for mutatio...
متن کاملNovel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy
PURPOSE To identify novel mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) in southern China and to delineate the mutation-associated clinical manifestations. METHODS Clinical data and genomic DNA were collected from 100 probands and their family members. The coding regions of FZD4 were screened for mutations with PCR and Sanger sequencing. ...
متن کاملIdentification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
PURPOSE To identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients. METHODS The study was conducted on 75 subjects from 53 Indian families. These families were clinically diagnosed to have FEVR by fundus examination and fluorescein angiography. The candidate gene FZD4 was amplified from genomic DNA and PCR products were screened for muta...
متن کاملIdentification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy
PURPOSE To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population. METHODS Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polyme...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2003
ISSN: 0007-1161
DOI: 10.1136/bjo.87.10.1291