![]() ![]() After bioinformatics and QC processing, 768 distinct USH2A variants were detected in all participants, including 136 disease-causing mutations present in 665 alleles, distributed in 5.81% of all participants. Results: Etiological mutations in USH2A, the most common cause of RP and USH, were found in 16.34% (n = 218) genetically solved IRD patients, with prevalences of 14.87% (190/1,278) and 50% (28/56). The genotype-phenotype correlation of all participants with USH2A variant was evaluated. Methods: We designed a retrospective study wherein a total of 1,334 patients diagnosed with IRD were included as a study cohort, namely 1,278 RP and 56 USH patients, as well as other types of IEDs patients and healthy family members as a control cohort. Purposes: We aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed genetic profile for Chinese patients with USH2A-IRD. 5Shanghai Key Laboratory of Visual Impairment and Restoration, Science and Technology Commission of Shanghai Municipality, Shanghai, China.4Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.3Department of Ophthalmology, Laizhou City People’s Hospital, Yantai, China.1College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.Wei Li 1,2* Xiao-Sen Jiang 1,2 Dong-Ming Han 1,2 Jia-Yu Gao 1,2 Zheng-Tao Yang 1,2 Li Jiang 3 Qian Zhang 1,2 Sheng-Hai Zhang 4,5 Ya Gao 2* Ji-Hong Wu 4,5* Jian-Kang Li 2* ![]()
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