Frontiers in Genetics (Sep 2019)
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
- Fang-Yuan Hu,
- Fang-Yuan Hu,
- Fang-Yuan Hu,
- Fang-Yuan Hu,
- Jian-kang Li,
- Jian-kang Li,
- Feng-Juan Gao,
- Feng-Juan Gao,
- Feng-Juan Gao,
- Feng-Juan Gao,
- Yu-He Qi,
- Yu-He Qi,
- Yu-He Qi,
- Yu-He Qi,
- Ping Xu,
- Ping Xu,
- Ping Xu,
- Ping Xu,
- Yong-Jin Zhang,
- Yong-Jin Zhang,
- Yong-Jin Zhang,
- Yong-Jin Zhang,
- Dan-Dan Wang,
- Dan-Dan Wang,
- Dan-Dan Wang,
- Dan-Dan Wang,
- Lu-Sheng Wang,
- Wei Li,
- Wei Li,
- Min Wang,
- Min Wang,
- Min Wang,
- Min Wang,
- Fang Chen,
- Fang Chen,
- Fang Chen,
- Si-Mai Shen,
- Ge-Zhi Xu,
- Ge-Zhi Xu,
- Ge-Zhi Xu,
- Ge-Zhi Xu,
- Sheng-Hai Zhang,
- Sheng-Hai Zhang,
- Sheng-Hai Zhang,
- Sheng-Hai Zhang,
- Qing Chang,
- Qing Chang,
- Qing Chang,
- Qing Chang,
- Ji-Hong Wu,
- Ji-Hong Wu,
- Ji-Hong Wu,
- Ji-Hong Wu
Affiliations
- Fang-Yuan Hu
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Fang-Yuan Hu
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Fang-Yuan Hu
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Fang-Yuan Hu
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Jian-kang Li
- BGI-Shenzhen, Shenzhen, China
- Jian-kang Li
- Department of Computer Science, City University of Hong Kong, Kowloon, Hong Kong
- Feng-Juan Gao
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Feng-Juan Gao
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Feng-Juan Gao
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Feng-Juan Gao
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Yu-He Qi
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Yu-He Qi
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Yu-He Qi
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Yu-He Qi
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Ping Xu
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Ping Xu
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Ping Xu
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Ping Xu
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Yong-Jin Zhang
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Yong-Jin Zhang
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Yong-Jin Zhang
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Yong-Jin Zhang
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Dan-Dan Wang
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Dan-Dan Wang
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Dan-Dan Wang
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Dan-Dan Wang
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Lu-Sheng Wang
- Department of Computer Science, City University of Hong Kong, Kowloon, Hong Kong
- Wei Li
- BGI-Shenzhen, Shenzhen, China
- Wei Li
- BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China
- Min Wang
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Min Wang
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Min Wang
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Min Wang
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Fang Chen
- BGI-Shenzhen, Shenzhen, China
- Fang Chen
- Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, Denmark
- Fang Chen
- Shenzhen Engineering Laboratory for Birth Defects Screening, BGI-Shenzhen, Shenzhen, China
- Si-Mai Shen
- 0University of Sichuan, Sichuan, China
- Ge-Zhi Xu
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Ge-Zhi Xu
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Ge-Zhi Xu
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Ge-Zhi Xu
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Sheng-Hai Zhang
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Sheng-Hai Zhang
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Sheng-Hai Zhang
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Sheng-Hai Zhang
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Qing Chang
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Qing Chang
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Qing Chang
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Qing Chang
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- Ji-Hong Wu
- Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China
- Ji-Hong Wu
- State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and Collaborative Innovation Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China
- Ji-Hong Wu
- Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China
- Ji-Hong Wu
- Key Laboratory of Myopia (Fudan University), Chinese Academy of Medical Sciences, National Health Commission, Shanghai, China
- DOI
- https://doi.org/10.3389/fgene.2019.00773
- Journal volume & issue
-
Vol. 10
Abstract
Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1).Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited for the analysis of ABCA4 variants. All probands with STGD1 underwent a comprehensive ophthalmologic examination. Overall, 792 genes involved in common inherited eye diseases were screened for variants by panel-based next-generation sequencing (NGS). Variants were filtered and analyzed to evaluate possible pathogenicity.Results: The total variant detection rate of at least one ABCA4 mutant allele was 84.3% (129/153): two or three disease-associated variants in 86 subjects (56.2%), one mutant allele in 43 subjects (28.1%), and no variants in 24 subjects (15.7%). Ninety-six variants were identified in the total cohort, which included 62 missense (64%), 15 splicing (16%), 11 frameshift (12%), 6 nonsense (6%), and 2 small insertion or deletion (2%) variants. Thirty-seven novel variants were found, including a de novo variant, c.4561delA. The most prevalent variant was c.101_106delCTTTAT (10.5%), followed by c.2894A > G (6.5%) and c.6563T > C (4.6%), in STGD1 patients from eastern China.Conclusion: Thirty-seven novel variants were detected using panel-based NGS, including one de novo variant, further extending the mutation spectrum of ABCA4. The common variants in a population from eastern China with STGD1 were also identified.
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