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Published on: January 16, 2019
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients
Yu Tian1, Luosheng Tang, Juanlian Cui
1The 2nd Xiangya Hospital, Department of Ophthalmology, Central South University, Changsha, China.
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.
