PURPOSE: To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). METHODS: Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS: In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, respectively. CONCLUSIONS: Two novel mutations in TULP1 were found to be associated with arRP. That they both compromise the gene product supports their pathogenicity. This gene was present in no more than 2% of a panel of 49 Spanish families affected by arRP.
PURPOSE: To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). METHODS: Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS: In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, respectively. CONCLUSIONS: Two novel mutations in TULP1 were found to be associated with arRP. That they both compromise the gene product supports their pathogenicity. This gene was present in no more than 2% of a panel of 49 Spanish families affected by arRP.
Authors: Quansheng Xi; Gayle J T Pauer; Alan D Marmorstein; John W Crabb; Stephanie A Hagstrom Journal: Invest Ophthalmol Vis Sci Date: 2005-12 Impact factor: 4.799
Authors: Gregory H Grossman; Rao F Watson; Gayle J T Pauer; Kathryn Bollinger; Stephanie A Hagstrom Journal: Exp Eye Res Date: 2011-08-16 Impact factor: 3.467
Authors: Quansheng Xi; Gayle J T Pauer; Sherry L Ball; Mary Rayborn; Joe G Hollyfield; Neal S Peachey; John W Crabb; Stephanie A Hagstrom Journal: Invest Ophthalmol Vis Sci Date: 2007-06 Impact factor: 4.799