Purpose A patient with retinitis pigmentosa demonstrated a novel RPGR mutation (213G > A, last base of exon 2) predicted to cause a missense change (G52R) in the final protein. This study w as performed to determine whether thismutation altered the effectiveness of the adjacent splice site. Design Observational case report. Methods Total RNA was ex tracted from leukocytes of the proband and his carrier mother. Reverse transcrip tion polymerase chain reaction (RT PCR) was performed by using the primers flan king exon 2 of RPGR transcript, followed by gel purification and direct sequenci ng. Results Sequencing revealed skipping of exon 2 in the mutated transcript, le ading to in frame deletion of 42 amino acids affecting the critical RCC1 like domain. Conclusions The last base of exons is conserved as “G”in 80%of splici ng consensus sequences, yet when changed, can completely disrupt constitutive sp licing as in this patient. Our data confirm that the evaluation of the effects o f some DNA sequence alterations at the RNA level might have important implicatio ns for appropriate genotypephenotype correlations.
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