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

Toomes, C, Bottomley, H, Jackson, R, Towns, K, Scott, S, Mackey, D, Craig, J, Jiang, L, Yang, Z, Trembath, R, Woodruff, G, Gregory-Evans, C, Gregory-Evans, K, Parker, M, Black, GCM, Downey, L, Zhang, K, Inglehearn, C

Am J Hum Genet. 2004;74( 4):721-30.

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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.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Publication form:
Published date:
Journal title:
ISSN:
Place of publication:
United States
Volume:
74( 4)
Start page:
721
End page:
30
Pagination:
721-30
Digital Object Identifier:
10.1086/383202
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d10678
Created:
29th August, 2009, 15:42:04
Last modified:
15th April, 2014, 13:08:10

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