期刊论文详细信息
Genes
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort
Changwon Keum1  Go-Hun Seo1  Eul-Ju Seo2  Joo-Yong Lee3  Young-Hee Yoon3  Yoon-Jeon Kim3  You-Na Kim3  Beom-Hee Lee4 
[1] 3billion Inc., Seoul 05505, Korea;Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea;Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea;Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul 05505, Korea;
关键词: retinitis pigmentosa;    inherited retinal diseases;    whole exome sequencing;    targeted next-generation sequencing;   
DOI  :  10.3390/genes12050675
来源: DOAJ
【 摘 要 】

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant interpretation. The combined genetic tests (TGS and/or WES) found a mutation in the 44 RP-causing genes and seven inherited retinal disease (IRD)-causing genes, and the total mutation detection rate was 57%. The mutation detection rate was higher in patients who experienced visual deterioration at a younger age (75.4%, age of symptom onset under 10 years) and who had a family history of RP (70.7%). The most common causative genes were EYS (8.2%), USH2A (6.8%), and PDE6B (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the PDE6B mutation was the most common in patients experiencing initial symptoms in their first decade, EYS in their second to third decades, and USH2A in their fifth decades and older. Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping.

【 授权许可】

Unknown   

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