Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

BMC Ophthalmology

Yuanqi Zhai¹  Wenqiu Wang¹  Shu Liu¹  Yafang Wang¹  Yang Liu¹  Xiaoling Wan¹  Xiaodong Sun²  Fenghua Wang² 

[1] Department of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of Medicine, 100 Haining Road, 200080, Shanghai, China;Department of Ophthalmology, Shanghai General Hospital (Shanghai First People’s Hospital), Shanghai Jiao Tong University School of Medicine, 100 Haining Road, 200080, Shanghai, China;Shanghai Key Laboratory of Ocular Fundus Diseases, 100 Haining Road, 200080, Shanghai, China;Shanghai Engineering Center for Visual Science and Photomedicine, 100 Haining Road, 200080, Shanghai, China;National Clinical Research Center for Eye Diseases, 100 Haining Road, 200080, Shanghai, China;Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Diseases, 100 Haining Road, 200080, Shanghai, China;

关键词: Cone-rod dystrophy;    RPGR;    Mutation;   

DOI  :  10.1186/s12886-021-02166-0

来源: Springer

【 摘 要 】

BackgroundCone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field. Our study has identified a novel pathogenic variant associated with X-linked cone-rod dystrophy (XLCORD) in a Chinese family.MethodsAll six family members, including the proband, affected siblings, cousins and female carriers, have underwent thorough ophthalmic examinations. The whole exome sequencing was performed for the proband, followed by Sanger sequencing for spilt-sample validation. A mammalian expression vector (AAV-MCS) with mutated retinitis pigmentosa GTPase regulator (RPGR) sequence was expressed in HEK293 T cells. The mutated protein was verified by Western blotting and immunohistochemistry.ResultsA novel mutation in the RPGR gene (c.2383G > T, p.E795X) is identified to be responsible for CORD pathogenesis.ConclusionsOur findings have expanded the spectrum of CORD-associated mutations in RPGR gene and serve as a basis for genetic diagnosis for X-linked CORD.

【 授权许可】

CC BY