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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

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Abstract
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.
Author(s)
금창원김유나김윤전서고흔서을주윤영희이범희이주용
Issued Date
2021
Type
Article
Keyword
inherited retinal diseasesretinitis pigmentosatargeted next-generation sequencingwhole exome sequencing
DOI
10.3390/genes12050675
URI
https://oak.ulsan.ac.kr/handle/2021.oak/7654
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_doaj_primary_oai_doaj_org_article_ade06a865f144810a0f607fb65b8df3b&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Diverse%20Genetic%20Landscape%20of%20Suspected%20Retinitis%20Pigmentosa%20in%20a%20Large%20Korean%20Cohort&offset=0&pcAvailability=true
Publisher
GENES
Location
스위스
Language
영어
ISSN
2073-4425
Citation Volume
12
Citation Number
5
Citation Start Page
0
Citation End Page
0
Appears in Collections:
Medicine > Medicine
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