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H. Kondo, T. Tahira, S. Kusaka, A. Yoshinaga, E. Uchio, A. Tawara, K. Hayashi; TSPAN12 Gene Mutations in Patients With Autosomal Dominant Familial Exudative Vitreoretinopathy. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2596.
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© ARVO (1962-2015); The Authors (2016-present)
Mutations in genes coding for components of a complex which activates the Norrin/β-catenin signaling pathway (FZD4, LRP5 and NDP) are known to cause familial exudative vitreoretinopathy (FEVR). TSPAN12 has been recently identified to participate in this complex, and is suggested to be another candidate gene for FEVR (Junge et al., Cell 2009). We search for mutations in TSPAN12 in Japanese patients with FEVR or Norrie disease (ND).
We directly sequenced all coding exons of TSPAN12 in 59 probands (32 familial and 27 simplex) of FEVR including three cases with ND. Prior to this study, known FEVR-causing genes (FZD4, LRP5 and NDP) have been screened for mutations. Possible relationships between clinical symptoms and mutations were assessed.
Twenty-seven patients who carried mutations either in FZD4, LRP5 or NDP had no mutation in TSPAN12. Two heterozygous novel mutations in TSPAN12 (L140X and L245P) were identified in two familial FEVR, out of the rest of 32 families. Both probands showed typical signs of FEVR, i.e., falciform retinal folds and dragged macula with retrolental fibrous tissues. The phenotype was different from typical symptoms of ND.
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