ABCA4 gene screening in a Chinese cohort with Stargardt disease : Identification of 37 novel variants
Research output: Journal Publications and Reviews (RGC: 21, 22, 62) › 21_Publication in refereed journal › peer-review
Related Research Unit(s)
|Journal / Publication||Frontiers in Genetics|
|Online published||5 Sep 2019|
|Publication status||Published - Sep 2019|
Publisher's Copyright Statement
|Link to Scopus||https://www.scopus.com/record/display.uri?eid=2-s2.0-85071470498&origin=recordpage|
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 are 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 are also identified. Provisional
- ABCA4 gene3, Mutation spectrum4, Next-generation sequencing2, STGD11, Variant frequency5
ABCA4 gene screening in a Chinese cohort with Stargardt disease : Identification of 37 novel variants. / Hu, Fang-Yuan; Li, Jian-kang; Gao, Feng-Juan; Qi, Yu-He; Xu, Ping; Zhang, Yong-Jin; Wang, Dan-Dan; Wang, Lu-Sheng; Li, Wei; Wang, Min; Chen, Fang; Shen, Si-Mai; Xu, Ge-Zhi; Zhang, Sheng-Hai; Chang, Qing; Wu, Ji-Hong.In: Frontiers in Genetics, Vol. 10, 773, 09.2019.