Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4mutations (H69Y and C181R)

@article{Omoto2004AutosomalDF,  title={Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4mutations (H69Y and C181R)},  author={Satoshi Omoto and Takaaki Hayashi and Kenji Kitahara and Tomokazu Takeuchi and Yasuo Ueoka},  journal={Ophthalmic Genetics},  year={2004},  volume={25},  pages={81 - 90},  url={https://api.semanticscholar.org/CorpusID:32817238}}
FZD4mutations in either the N- or C-terminal region underlie adFEVR, which indicates that FZD 4 plays an important role in retinal angiogenesis.

40 Citations

Complexity of the genotype–phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes

It is demonstrated that reduced bone density is a common feature in patients with FEVR who harbor LRP5 mutations, and the profile of the mutations obtained in the current study further illustrates the complexity of the disease.

The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

FZD4 mutation screening can be a useful tool especially in mild or atypical cases of FEVR, and three severely affected cases with FZD 4 mutations failed to show additional mutations in the three other FEVR genes.

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

This study identified two novel FZD4 mutations in Chinese patients with FEVR: p.E134* and p.T503fs, which involve highly conserved residues and were not present in 800 normal individuals.

Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.

PURPOSETo identify novel mutations in FZD4 gene that cause familial exudative vitreoretinopathy (FEVR) in Indian patients.METHODSThe study was conducted on 75 subjects from 53 Indian families.…

Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees

The clinical features in the three children and their relatives with a documented FZD4 mutation support the previous reports of a high degree of intrafamilial and interfamilial variability in FEVR.

Risk allele of the FZD4 gene for familial exudative vitreoretinopathy

Line of evidence indicated that p.H69Y is pathogenic, a variant of FZD4 that is located on the surface of the highly conserved cysteine-rich domain that serves as a binding site for the ligand of the WNT signaling pathway, Norrin, a product of the NDP gene.

Genetics of familial exudative vitreoretinopathy and its implications for management

The availability of animal models for all four FEVR-causing mutant genes may provide opportunities for further investigations on the basic Wnt-signaling mechanism, which may ultimately lead to better understanding of the abnormal vascularization of the retina and the development of novel therapeutic approaches to prevent or treat this pediatric blinding disorder.

Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.

This study supports the highly polymorphic nature of FZD4 with a differential mutation profile in the Chinese population and provides a better understanding of the genotype-phenotype correlations.

Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.

OBJECTIVETo correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the FZD4 gene.METHODSA total of 123 patients diagnosed with…

FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations

The FZD4 probands had severer phenotype than the family members, and the FEVR stage difference was greater between the probands and mothers than that between the Probands and fathers.

28 References

Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity

FZD4 gene mutations were found in some cases of autosomal dominant and sporadic FEVR, and were responsible for FEVR with variable clinical manifestations.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

Injection of wildtype and mutated FZD4 into Xenopus laevis embryos revealed that wildtype, but not mutant, frizzled-4 activated calcium/calmodulin-dependent protein kinase II andprotein kinase C, components of the Wnt/Ca2+ signaling pathway.

The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.

Multipoint analyses showed that the adFEVR locus maps most likely, with a maximum location score of over 20, between D 11S533/D11S527 and D11S35, at recombination rates of .147 and .104, respectively.

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

Molecular genetic analysis reveals a missense mutation in the third exon of the Norrie's disease gene that perfectly cosegregates with the disease through three generations in one family, suggesting that it is likely to be the pathogenic mutation.

A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy

Molecular analysis of the Norrie gene locus in a four generation FEVR family reveals a missense mutation in the highly conserved region of the NDP gene, suggesting that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene.

Delineation of the critical interval for the familial exudative vitreoretinopathy gene by linkage and haplotype analysis

Haplotype analysis reveals that the putative region of the EVR1 locus is probably flanked by polymorphic markers D11S1362 and CHLC, although the recombination events in small families such as presented in this study should be interpreted cautiously.

A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.

A new locus for familial exudative vitreoretinopathy, on chromosome 11p12-13 in a large autosomal dominant pedigree, is reported, which may have a role in the genetic predisposition to retinopathy of prematurity, a sporadic disorder with many clinical similarities to FEVR.

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.

Two-point analysis on a total of four families has revealed close linkage between the disease locus and D11S873, and no evidence appeared for genetic/linkage heterogeneity among the four families examined.

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described, and it is speculated that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

Autosomal dominant exudative vitreoretinopathy.

Of particular interest in this pedigree was the sole clinical finding of isolated intraretinal deposits in four family members, which may represent a mild expression of the disease and warrant appropriate genetic counseling.

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