Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa

ABSTRACT

Background

Retinitis pigmentosa (RP) is an inherited disorder that causes progressive loss of vision. This study aimed to describe the possible causative variants of the USH2A gene in Korean RP families and their associated phenotypes.

Materials and methods

We recruited 94 RP families (220 subjects, including 94 probands and 126 family members) in a Korean cohort, and analyzed USH2A gene variants through whole-exome sequencing. The pathogenicity of the variants was classified according to American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines.

Results

We found 14 USH2A disease-causing variants, including 5 novel variants. Disease causing variants were identified in 10 probands with RP, accounting for 10.6% (10/94) of the Korean RPs in the cohort. To visually represent the structural changes induced by novel variants, we modeled the three-dimensional structures of the wild-type and mutant proteins.

Conclusions

This study expands the spectrum of USH2A variants and provides information for future therapeutic strategies for RP.

KEYWORDS:

• USH2A
• retinitis pigmentosa
• Korean
• Inherited mutation

Acknowledgments

We would like to thank the patients and families who participated. We would also like to thank grateful Korean Foundation Fighting Blindness staff who recruited participants and Jongyoon Kang, Jinhee Lee for their patient consultation and blood collection efforts. We would like to thank Editage (www.editage.co.kr) for English language editing.

Disclosure statement

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

Additional information

Funding

This research was supported by the Biotechnology & Healthcare for Korea-India International Joint R&D Partnering of the National Research Foundation grant funded by the Korea government (NRF-2020K1A3A1A57080204 funded by NRF).