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Updated: Jul 4, 2025
A Rhodopsin Transport Assay by High-Content Imaging Analysis
Published on: January 16, 2019
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa
Jianfu Zhuang1, Rongcai Zhang2, Biting Zhou3
1Ophthalmology, Xiamen Eye Center of Xiamen University, Xiamen, Fujian, China.
Purpose:
To identify RHO mutations in patients with non-syndromic retinitis pigmentosa (NS-RP).
Methods:
A total of 143 probands (46 family history and 97 sporadic cases) with NS-RP were recruited from Southeast China. The coding exons and adjacent intronic regions of RHO were PCR-amplified and sequenced by Sanger sequencing. The candidate variant was evaluated by the guidelines of American College of Medical Genetics and further validated through co-segregation analysis within the family.
Results:
Five heterozygous mutations in RHO were detected in 5 out of 143 probands, where the frequency of RHO mutations in our cohort was approximately 3.5% (5/143) and 10.8% (5/46) for probands and families with NS-RP, respectively. Three known disease-causing mutations including c.C1030T (p.Q344X), c.C173G (p.T58R), and c.G266A (p.G89D) were identified in three unrelated families. The other two previously unreported mutations c.557C>A (p.S186X) and c.944delA (p.N315TfsX43) were confirmed in Family RP-087 and Family RP-139, respectively. These mutations co-segregated with available affected individuals in each family were not observed in the unaffected family members or in the 112 unrelated controls.
Conclusions:
This report expands the mutational spectrum of RHO gene associated with NS-RP and demonstrates the frequency of RP RHO mutations in Southeast Chinese populations.
