Artikel
Autosomal dominant exudative vitreoretinopathy (adEVR) mutation of the FZD4 gene
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Autoren
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U. Klär-Dißars
- Department of Ophthalmology University Medical School, Lübeck
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U. Orth
- Institute of Human Genetics, University Hospital Eppendorf, Hamburg
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A. Gal
- Institute of Human Genetics, University Hospital Eppendorf, Hamburg
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H. Laqua
- Department of Ophthalmology University Medical School, Lübeck
| Veröffentlicht: | 22. September 2004 |
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Gliederung
Text
Objective
The adEVR is a seldom, inherited disease of the human retinal vascular system with nearly 100 % penetrance of the mutation, and with greatly varied phenotype. In case of severely affected eyes this may lead to total blindness. Recently one of the EVR gene (chromosomes 11q13-23(EVR1)) was identified. This was the gene FZD4, a member of the proteins "frizzled", which plays an important role in in cell-differentiation and malignant cell-transformation. To date, 6 different FZD4 mutations are known.
Methods
We performed a complete ophthalmologic examination of two families with adEVR as well as a mutation screening of FZD4.
Results
Analysis of the first family detected a missens mutation (G492R), which had not been reported so far. The second family showed a deletion of 5 nucleotides (c.1286del5). Analysis of all affected family members showed the family specific mutation. However, clinical appearance of the disease varied substantially among the family members.
Conclusions
The FZD4 gene plays a key role in the retinal angiogenesis. For the human genetic advise the evidence of a mutation is not only of academic importance. As the retinal examination is particularly difficult with children, the analysis and exclusion of a mutation is also of practical importance.
