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Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

  • Gao, Feng-Juan1, 2, 3, 4
  • Tian, Guo-Hong1, 2, 3, 4
  • Hu, Fang-Yuan1, 2, 3, 4
  • Wang, Dan-Dan1, 2, 3, 4
  • Li, Jian-Kang5, 6, 7
  • Chang, Qing1, 2, 3, 4
  • Chen, Fang5, 6, 7
  • Xu, Ge-Zhi1, 2, 3, 4
  • Liu, Wei1, 2, 3, 4
  • Wu, Ji-Hong1, 2, 3, 4
  • 1 Eye and ENT Hospital, Fudan University, Shanghai, 200032, China , Shanghai (China)
  • 2 Science and Technology Commission of Shanghai Municipality, Shanghai, China , Shanghai (China)
  • 3 Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China , Shanghai (China)
  • 4 Fudan University, Shanghai, China , Shanghai (China)
  • 5 BGI-Shenzhen, Shenzhen, Guangdong, China , Shenzhen (China)
  • 6 BGI-Changyuan, Xinxiang, Henan, China , Xinxiang (China)
  • 7 University of Chinese Academy of Sciences, Shenzhen, China , Shenzhen (China)
Published Article
BMC Ophthalmology
Springer (Biomed Central Ltd.)
Publication Date
Jun 01, 2020
DOI: 10.1186/s12886-020-01478-x
Springer Nature


BackgroundTo report the clinical and genetic findings from seven Chinese patients with choroideremia.MethodsFive hundred seventy-eight patients with a clinically suspected diagnosis of retinitis pigmentosa (RP) underwent comprehensive ophthalmic examinations. Next-generation sequencing (NGS) was performed on samples from all patients. Detailed clinical characteristics of the patients with choroideremia identified in this study were assessed using multimodal imaging.ResultsSeven patients with choroideremia were identified, and six novel variants in CHM (c.1960 T > C p.Ter654Gln, c.1257del p.Ile420*fs1, c.1103_1121delATGGCAACACTCCATTTTT p.Tyr368Cysfs35, c.1414-2A > T, and c.1213C > T p.Gln405Ter, c.117-1G > A) were revealed. All variants were deleterious mutations: two were frameshifts, two were nonsense mutations, two were splicing mutations, and one was a readthrough mutation. The clinical phenotypes of these patients were markedly heterogeneous, and they shared many common clinical features with RP, including night blindness, constriction of the visual field and gradually reduced visual acuity. However, patients with choroideremia showed pigment hypertrophy and clumping, and chorioretinal atrophy, and a majority of patients with choroideremia presented with retinal tubulations in the outer layer of the retina.ConclusionsWe provide a detailed description of the genotypes and phenotypes of seven patients with choroideremia who were accurately diagnosed using NGS. These findings provide a better understanding of the genetics and phenotypes of choroideremia.

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