https://scholars.lib.ntu.edu.tw/handle/123456789/634149
標題: | PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2 -RELATED BIETTI CRYSTALLINE DYSTROPHY | 作者: | Chan, Li Wei Sung, Yu Chi Wu, Dung Chi CHIEN-YU CHEN CHANG-HAO YANG CHUNG-MAY YANG PEI-LUNG CHEN TA-CHING CHEN |
關鍵字: | Bietti crystalline dystrophy | CYP4V2 | genotype-phenotype correlation | protein structure prediction | severity score | 公開日期: | 1-四月-2022 | 卷: | 42 | 期: | 4 | 來源出版物: | Retina | 摘要: | Purpose:To investigate the relationship between different CYP4V2 disease-causing variants and disease severity in Bietti crystalline dystrophy (BCD).Methods:Twenty-one subjects from 19 unrelated families with a clinical diagnosis of BCD were enrolled. A novel severity prediction score for BCD based on the predicted molecular impact of CYP4V2 variants was applied for grouping and subsequent analyses. The more severe variants led to less CYP4V2 protein function preservation and a higher severity prediction score.Results:All subjects harbored two alleles of CYP4V2 disease-causing variants, of which c.802-8_810del17insGC was the most prevalent (14/21, 66.67%) and c.1507G>C was novel. According to the severity score, the subjects were categorized into severe, moderate, and mild groups with different preservation of central vision (mean logMAR visual acuity 0.95 ± 0.82, 0.89 ± 1.22, and 0.56 ± 0.64, respectively). The patients with a lower severity score had slower disease progression.Conclusion:This is the first cohort study of BCD in Taiwan, and we established a novel BCD severity index based on the molecular impact of different CYP4V2 variants. More severe impairment of CYP4V2 protein led to a more severe disease course with earlier progression. Our results could be helpful in identifying a therapeutic window for patients with BCD. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/634149 | ISSN: | 0275004X | DOI: | 10.1097/IAE.0000000000003381 |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。