Screening for the Carbonic Anhydrase IV Gene Mutations in Chinese Retinitis Pigmentosa Patients

Abstract

Purpose: To investigate the significance of carbonic anhydrase IV gene mutations in sporadic retinitis pigmentosa (RP) among the Chinese population.Methods: A total of 116 patients with simplex RP and adRP of Chinese ethnicity were screened for mutations in the eight coding exons of the CA4 gene by sequencing. Immunostaining and Real-Time PCR were used to measure the cellular localization and expression level of CA4 variations.Results: Ten sequence alterations were identified, including a novel variant within exon 1 of CA4 (A12T) in a patient with RP. No notable difference was found between wild-type protein and A12T mutant protein in the distribution pattern. However, there was a decrease in level of mRNA expression of 3′ UTR mutant to wild-type.Conclusions: The results suggest that the expression level of CA IV may be important to maintain retina function in RP.