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

C. Toomes, H.M. Bottomley, R.M. Jackson, K.V. Towns, S. Scott, David Mackey, J.E. Craig, L. Jiang, Z. Yang, R. Trembath, G. Woodruff, C.Y. Gregory-Evans, K. Gregory-Evans, M.J. Parker, G.C.M. Black, L.M. Downey, K. Zhang, C.F. Inglehearn

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313 Citations (Scopus)

Abstract

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder that affects both the retina and vitreous body. Autosomal recessive FEVR was diagnosed in multiple individuals from three consanguineous families of European descent. A candidate-locus-directed genome scan shows linkage to the region on chromosome 11q flanked by markers D11S905 and D11S1314. The maximum LOD score of 3.6 at theta = 0 is obtained with marker D11S987. Haplotype analysis confirms that the critical region is the 22-cM (311-Mb) interval flanked by markers D11S905 and D11S1314. This region contains LRP5 but not FZD4; mutations in both of these genes cause autosomal dominant FEVR. Sequencing of LRP5 shows, in all three families, homozygous mutations R570Q, R752G, and E1367K. This suggests that mutations in this gene can cause autosomal recessive as well as autosomal dominant FEVR.
Original languageEnglish
Pages (from-to)721-730
JournalAmerican Journal of Human Genetics
Volume74
Issue number4
DOIs
Publication statusPublished - 2004

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