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S Gerber, I Perrault, S Hanein, F Barbet, D Ducroq, S Hakiki, J-L Dufier, A Munnich, J Kaplan, JM Rozet; The Retinitis Pigmentosa GTPase Regulator - Interacting Protein 1 (RPGRIP1) Gene, a Gene Which Never Stops Expanding . Invest. Ophthalmol. Vis. Sci. 2002;43(13):799.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: Considering that i) in our series of patients affected with Leber congenital amaurosis (LCA), 4/8 patients linked to this gene have been found to carry only one heterozygous truncating mutation in one of the 24 recently published exons of the RPGRIP1 gene (Gerber et al, 2001) and ii) several additional exons might exist in the 5' region of this gene (Human Genome Working Draft), we decided to determine whether the coding sequence of this gene is larger than reported. Subsequently, we tried to evaluate whether the implication of the RPGRIP1 gene in LCA is more frequent than published. Methods: The Human Genome Working Draft (http:\\genome.ucsc.edu) was screened for additional RPGRIP1 exons. Putative exons were identified in the 5' region of the gene. Their existence was confirmed by retro-transcription and PCR of human retinal mRNA. Subsequently, specific primers were designed from the intron sequences flanking the newly identified exons in order to screen the 125 LCA patients of our series. Both DHPLC and direct sequencing were used. Results: Additional RPGRIP 1 exons were identified in the 5' region of the gene. The screening of these novel exons allowed the detection of new mutations in LCA patients. The structure of the RPGRIP1 gene as well as the results of the mutational screening will be presented. Conclusion: This study allowed us to demonstrate that the RPGRIP1 gene originally reported to contain 15 exons is even larger than the 24 exons very recently reported and accounts for a not inconsiderable number of LCA cases in our series.
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