Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Human Mutation
Konstantinos NikopoulosFrans P M Cremers


Wnt signaling is a crucial component of the cell machinery orchestrating a series of physiological processes such as cell survival, proliferation, and migration. Among the plethora of roles that Wnt signaling plays, its canonical branch regulates eye organogenesis and angiogenesis. Mutations in the genes encoding the low density lipoprotein receptor protein 5 (LRP5) and frizzled 4 (FZD4), acting as coreceptors for Wnt ligands, cause familial exudative vitreoretinopathy (FEVR). Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR. Both FEVR and Norrie disease share similar phenotypic characteristics, including abnormal vascularization of the peripheral retina and formation of fibrovascular masses in the eye that can lead to blindness. In this mutation update, we report 21 novel variants for FZD4, LRP5, and NDP, and discuss the putative functional consequences of missense mutations. In addition, we provide a comprehensive overview of all previously published variants in the aforementioned genes and summarize the phenotypic characteristics in mouse models carrying mutations in the orthologous genes. The increasing molecular understanding of Wnt signaling, related to ocular d...Continue Reading


Mar 1, 1975·Acta Ophthalmologica·M Warburg
Jul 1, 1976·Archives of Ophthalmology·C L Canny, G L Oliver
Jun 1, 1992·Nature Genetics·W BergerM Warburg
Jun 1, 1992·Nature Genetics·Z Y ChenI W Craig
Oct 1, 1992·Human Molecular Genetics·W BergerH H Ropers
Apr 25, 1991·American Journal of Ophthalmology·L B EnyediA Gaitan
Feb 1, 1985·Ophthalmic Paediatrics and Genetics·C E van Nouhuys
Nov 1, 1973·American Journal of Ophthalmology·P L Townes, P D Roca
Oct 1, 1969·American Journal of Ophthalmology·V G Criswick, C L Schepens
Aug 1, 1971·Archives of Ophthalmology·J Gow, G L Oliver
Dec 1, 1984·Ophthalmology·H MiyakuboS Miyakubo
Oct 1, 1983·Archives of Ophthalmology·E L FeldmanG W Cleasby
Jan 1, 1980·Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie. Albrecht Von Graefe's Archive for Clinical and Experimental Ophthalmology·H Laqua
Jan 1, 1982·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·H MiyakuboK Hashimoto
Jan 1, 1995·Human Mutation·D E SchubackK B Sims
Jul 1, 1995·The British Journal of Ophthalmology·Y IsashikiU Tanabe
Dec 1, 1994·Archives of Ophthalmology·K M JoosE M Stone
Jan 1, 1996·Acta Ophthalmologica Scandinavica. Supplement·A GalK Senyi
Jan 1, 1996·Human Molecular Genetics·W BergerH H Ropers
Apr 1, 1997·Archives of Ophthalmology·K B SimsW V Good
Nov 2, 1999·European Journal of Ophthalmology·B S ShastryM T Trese
Nov 11, 1999·Proceedings of the National Academy of Sciences of the United States of America·R V StanG E Palade
Apr 25, 2000·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·S OttJ T Stout
Sep 16, 2000·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·D J FigueroaC P Austin

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