Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa

ABSTRACT

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.

KEYWORDS:

• Retinitis pigmentosa
• RHO
• variant
• autosomal dominant

Acknowledgments

We are grateful to the patients and their families for participating in this study.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/13816810.2023.2294843.

Additional information

Funding

This work was sponsored by National Natural Science Foundation of China [grant No. 81570870], Natural Science Foundation of Fujian Province [grant No. 2023J01312] and Medicine and Health Science and Technology Plan Projects of Xiamen City [3502Z20194067].