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

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Publication Type Journal Article
School or College School of Medicine
Department Ophthalmology
Creator Zhang, Kang; Yang, Zhenglin; Jiang, Li
Other Author Toomes, Carmel; Bottomley, Helen M.; Jackson, Richard M.; Towns, Katherine V.; Scott, Sheila; Mackey, David A.; Craig, Jamie E.; Trembath, Richard; Woodruff, Geoffrey; Gregory-Evans, Cheryl Y.; Gregory-Evans, Kevin; Parker, Michael J.; Black, Graeme C. M.; Downey, Louise M.; Inglehearn, Chris F.
Title Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
Date 2004
Description 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.
Type Text
Publisher University of Chicago Press
Volume 74
Issue 4
First Page 721
Last Page 730
Subject Familial exudative vitreoretinopathy; FEVR; Inherited blinding disorders
Subject MESH Blindness; Inheritance Patterns
Language eng
Bibliographic Citation Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF. (2004). Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet, 74(4), 721-30
Rights Management (c) University of Chicago Press
Format Medium application/pdf
Identifier ir-main,1863
ARK ark:/87278/s6xp7p6d
Setname ir_uspace
Date Created 2012-06-13
Date Modified 2021-05-06
ID 704059
Reference URL https://collections.lib.utah.edu/ark:/87278/s6xp7p6d
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