Genetic Variants in Chinese Patients with Leber Congenital Amaurosis
Author Information
Author(s): Li Lin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Guo Xiangming, Jiao Xiaodong, Zhang Qingjiong, Hejtmancik J. Fielding
Primary Institution: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, Guangdong, China
Hypothesis
The full spectrum of variations in the 15 genes known to cause Leber congenital amaurosis has not been systematically evaluated in East Asians.
Conclusion
The study found that specific differences in the variation spectrum of LCA patients from Han Chinese and other populations are related to ethnicity.
Supporting Evidence
- Fifty-three different variants were identified in 44 of the 87 patients (50.6%).
- Of the 53 variants, 35 (66%) were novel pathogenic mutations.
- Variants in GUCY2D were the most common cause of LCA in these patients, accounting for 16.1% of cases.
Takeaway
This study looked at 87 Chinese patients with a type of blindness called Leber congenital amaurosis and found many new genetic changes that can cause this condition.
Methodology
The study involved sequencing the most frequently mutated exons and introns in 15 genes among 87 unrelated Han Chinese patients with LCA.
Limitations
The study only analyzed exons with previously reported variants for some genes due to their rarity.
Participant Demographics
All participants were unrelated Han Chinese patients from southern China.
Digital Object Identifier (DOI)
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