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Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

Citation

Toomes, C and Bottomley, HM and Jackson, RM and Towns, KV and Scott, S and Mackey, DA and Craig, JE and Jiang, L and Yang, ZL and Trembath, R and Woodruff, G and Gregory-Evans, CY and Gregory-Evans, K and Parker, MJ and Downey, LM and Zhang, K and Inglehearn, CF, Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q, American Journal of Human Genetics, 74, (4) pp. 721-730. ISSN 0002-9297 (2004) [Refereed Article]

DOI: doi:10.1086/383202

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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
ID Code:30886
Year Published:2004
Web of Science® Times Cited:200
Deposited By:Medicine (Discipline)
Deposited On:2004-08-01
Last Modified:2005-07-12
Downloads:0

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