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- DOI: 10.1086/383202
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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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Full-text held externally
- 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.
Keyword(s)
Amino Acid Sequence; Base Sequence; Female; Humans; Male; Models, Molecular; Molecular Sequence Data; Pedigree; Polymorphism, Single-Stranded Conformational; Protein Structure, Tertiary; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; chemistry: Receptors, LDL; genetics: Chromosomes, Human, Pair 11; genetics: Exons; genetics: Introns; genetics: Mutation; genetics: Proteins; genetics: Retinal Diseases