Unknown

Dataset Information

0

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

ABSTRACT: Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal locus, EVR1, is on chromosome 11q13-q23. The gene encoding the Wnt receptor frizzled-4 (FZD4) was recently reported to be the EVR1 gene, but our mutation screen revealed fewer patients harboring mutations than expected. Here, we describe mutations in a second gene at the EVR1 locus, low-density-lipoprotein receptor-related protein 5 (LRP5), a Wnt coreceptor. This finding further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies.

SUBMITTER: Toomes C 

PROVIDER: S-EPMC1181948 | biostudies-literature | 2004 Apr

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal locus, EVR1, is on chromosome 11q13-q23. The gene encoding the Wnt receptor frizzled-4 (FZD4) was recently reported to be the EVR1 gene, but our mutation screen revealed fewer patients harboring mutations than expected. Here, we describe mutations in a second gene at the EVR1 locus, low-density-lipoprotein receptor-r  ...[more]

Similar Datasets

Unknown Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.
| S-EPMC3472927 | biostudies-literature
Unknown Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy.
| S-EPMC8306649 | biostudies-literature
Unknown Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.
| S-EPMC8915523 | biostudies-literature
Unknown Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
| S-EPMC6408821 | biostudies-literature
Unknown Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.
| S-EPMC1182117 | biostudies-literature
Unknown Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.
| S-EPMC3976684 | biostudies-literature
Unknown A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.
| S-EPMC1274490 | biostudies-literature
Unknown Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.
| S-EPMC4632081 | biostudies-literature
Unknown FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
| S-EPMC8994167 | biostudies-literature
Unknown Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy.
| S-EPMC4968609 | biostudies-literature