Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
复制标题
DOI：
10.1038/s41525-021-00180-1
复制
发表时间：
2021-02-19
影响因子：
5.3
通讯作者：
Chen PL
中科院分区：
文献类型：
--
作者：
Chen TC;Huang DS;Lin CW;Yang CH;Yang CM;Wang VY;Lin JW;Luo AC;Hu FR;Chen PL
Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan. Totally, 312 families with IRDs were identified and recruited and genetic testing was performed via probe capture-based NGS targeting 212 IRD-related genes. Statistical analysis was based on the proband of each affected family. Disease-causing genotypes were identified in 178 families (57.1%). ABCA4 variants were the most common cause of disease in this cohort (27 families, 15.2%), whereas CYP4V2 variants were the most common cause for the single phenotype—Bietti’s crystalline dystrophy (12 families, 3.8%). Some variants such as ABCA4:c.1804C>T, CYP4V2:c.802-8_810delinsGC, and EYS:c6416G>A were population-specific disease-causing hotspots. Probands affected by ABCA4, RPGR, RP1L1, and CEP290 sought medical help earlier while patients affected by EYS and CYP4V2 visited our clinic at an older age. To evaluate the representativeness of our cohort in the genetic epidemiology of IRDs in Taiwan, our demographic data were compared with that of the total IRD population in Taiwan, obtained from the National Health Insurance Research Database. This is currently the largest-scale, comprehensive study investigating the genetic characteristics and epidemiology of IRD in Taiwan. These data could help patients and caregivers to adopt precision genomic medicine and novel gene therapies in near future.
登录
查看更多内容
影响因子：
4.6
作者：
Corton, M.;Avila-Fernandez, A.;Ayuso, C.
通讯作者：
Ayuso, C.
影响因子：
5.2
作者：
Shanks, Morag E.;Downes, Susan M.;Nemeth, Andrea H.
通讯作者：
Nemeth, Andrea H.
下一代测序揭示了一大群遗传性视网膜营养不良患者的基因型-表型相关性和突变谱
影响因子：
8.8
作者：
Huang, Xiu-Feng;Huang, Fang;Jin, Zi-Bing
通讯作者：
Jin, Zi-Bing
影响因子：
4.6
作者：
Carrigan M;Duignan E;Malone CP;Stephenson K;Saad T;McDermott C;Green A;Keegan D;Humphries P;Kenna PF;Farrar GJ
通讯作者：
Farrar GJ
影响因子：
13.7
作者：
Pierrache LHM;Kimchi A;Ratnapriya R;Roberts L;Astuti GDN;Obolensky A;Beryozkin A;Tjon-Fo-Sang MJH;Schuil J;Klaver CCW;Bongers EMHF;Haer-Wigman L;Schalij N;Breuning MH;Fischer GM;Banin E;Ramesar RS;Swaroop A;van den Born LI;Sharon D;Cremers FPM
通讯作者：
Cremers FPM