Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

PURPOSE. To assess the contribution of TULP1 to autosomal recessive retinit is pigmentosa (arRP). METHODS. Fifteen exons of the gene were screened by single-strand conformat ion polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers. RESULTS. In one of the seven families two allelic mutations, TVS4-2delAGA a nd 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 pathogenici ty. This gene was present in no more than 2% of a panel of 49 Spanish famil ies affected by arRP.