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Wendy A. Dailey, Antonio Tarasconi, Courtney Kauh, Sean Gappy, Kimberly A. Drenser; TSPAN12 Mutations in Familial Exudative Vitreoretinopathy Patients. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2383.
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Recently, Tetraspanin12 (TSPAN12) mutations have been reported in patients with Familial Exudative Vitreoretinopathy (AdFEVR). In this study we screened the TSPAN12 gene of FEVR patients by direct sequencing.
Primers were designed to screen all 7 coding exons and splice sites of the TSPAN12 gene. PCR Reactions were run using Beckman Dye Terminator Cycle Sequencing kits with subsequent detection on a Beckman CEQ8000. The number of patients evaluated were as follows; 100 (FEVR), 49 (Possible FEVR) and 50 (control). Patients with a diagnosis of Possible FEVR were designated FEVR or (PFVS/Norrie/IP/Coats) after clinical examination. DNA from patients with an unrelated retinal disease, X-linked Retinoschisis (XLRS) was used as control.
A novel mutation in exon 6, (c.497delT), was discovered in a pair of brothers diagnosed with FEVR. No other sequence variations were found.
Previous reports have indicated that ~10% of FEVR patients have TSPAN12 mutations. However very few studies have been conducted to date since TSPAN12 involvement in FEVR has been only recently discovered. In our study, we found that only 2% of the FEVR patients had TSPAN12 mutations. Perhaps this is an indication of the severity of disease within the patients of our study group. Since our practice is a referral center for pediatric retinal cases, the patient population tends to have more severe disease.
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