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Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease
  1. Feng-Juan Gao1,2,3,
  2. Dan-Dan Wang1,2,3,
  3. Fang Chen4,5,6,
  4. Hao-Xiang Sun7,
  5. Fang-Yuan Hu1,2,3,
  6. Ping Xu1,2,3,
  7. Jiankang Li6,8,
  8. Wei Liu1,2,3,
  9. Yu-He Qi1,2,3,
  10. Wei Li6,9,
  11. Ming Wang1,2,3,
  12. Shenghai Zhang1,2,3,
  13. Ge-Zhi Xu1,2,3,
  14. Qing Chang1,2,3,
  15. Ji-Hong Wu1,2,3
  1. 1Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shang Hai, China
  2. 2Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shang Hai, China
  3. 3Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shang Hai, China
  4. 4Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, Denmark
  5. 5Shenzhen Engineering Laboratory for Birth Defects Screening, BGI-Shenzhen, Shenzhen, China
  6. 6BGI-Shenzhen, Shenzhen, China
  7. 7Sonoma Academy, Santa Rosa, CA
  8. 8Dept of Computer Science, City University of Hong Kong, Hong Kong, China
  9. 9BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China
  1. Correspondence to Professor Ji-Hong Wu, Ophthalmology, Shanghai, China; jihongwu{at}


Aims To investigate the frequency of USH2A mutation and the clinical and genetic differences between Usher syndrome type II (USH2) and retinitis pigmentosa (RP) in a large cohort of Chinese patients.

Methods A total of 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic and genotypic information of patients with USH2A mutations was evaluated.

Results The prevalence of patients with USH2A mutations was 15.75%, which was the most frequently detected gene in this cohort of patients. Hotspot of USH2A mutations was c.8559-2A >G and c.2802T >G. Patients with USH2 had an earlier and more serious decline of visual function and damage to retina structure than did patients with RP in the first 10 years (p<0.05), but there was no difference in the visual prognosis between the two groups when the course of disease exceeded 10 years (p>0.05). Missense variants had less severe consequences and were found more commonly in RP, whereas more deleterious genotypes were associated with an earlier onset of disease and were found more commonly in USH2.

Conclusions This study provides detailed clinical–genetic assessment of patients with USH2A mutations of Chinese origin, enabling precise genetic diagnoses, better management of these patients and putative therapeutic approaches.

  • retina
  • genetics
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  • F-JG, D-DW and FC are joint first authors.

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  • QC and J-HW contributed equally.

  • Contributors J-HW conceived and designed the experiments. WL, QC, PX, J-HW, F-JG, D-DW and Y-HQ collected the clinical samples. F-JG, J-HW, H-XS, F-YH, JL, FC, WL and D-DW analysed sequencing data. G-ZX, WL, F-JG and Y-HQ recruited patients, performed clinical examination of patients and clinical interpretation. F-JG and J-HW drafted and revised the manuscript.

  • Funding Supported by the National Natural Science Foundation of China (Grant NSFC81770925, 81790641), Xuhui District Health and Family Planning Commission Key Disease Joint Project (XHLHGG201807), the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2018PT32019. Shanghai Municipal Science and Technology Major Projects (2018SHZDZX05). Shanghai Clinical Medical Center of Ocular Disease (2017ZZ01020).

  • Competing interests None declared.

  • Patient consent for publication Parental or guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.

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