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Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
DC Field | Value | Language |
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dc.contributor.author | 변석호 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 이준원 | - |
dc.contributor.author | 최종락 | - |
dc.contributor.author | 한승한 | - |
dc.contributor.author | 한진우 | - |
dc.date.accessioned | 2020-06-17T00:23:39Z | - |
dc.date.available | 2020-06-17T00:23:39Z | - |
dc.date.issued | 2020-02 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/175947 | - |
dc.description.abstract | Purpose: We comprehensively evaluated the mutational spectrum of Leber congenital amaurosis (LCA) and investigated the molecular diagnostic rate and genotype-phenotype correlation in a Korean cohort. Methods: This single-center retrospective case series included 50 Korean patients with LCA between June 2015 and March 2019. Molecular analysis was conducted using targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing. The molecular diagnosis was made based on the inheritance pattern, zygosity, and pathogenicity. Results: Among the 50 patients, 27 patients (54%) were male, and 11 (22%) showed systemic features. Genetic variants highly likely to be causative were identified in 78% (39/50) of cases and segregated into families. We detected two pathogenic or likely pathogenic variants in a gene linked to a recessive trait without segregation analysis in three cases (6.0%). GUCY2D (20%), NMNAT1 (18%), and CEP290 (16%) were the most frequently mutated genes in Korean LCA. Copy number variations were found in three patients, which accounted for 6% of LCA cases. A possible dual molecular diagnosis (Senior-Løken syndrome along with Leigh syndrome, and Joubert syndrome with transposition of the great arteries) was made in two patients (4%). Three of 50 patients were medically or surgically actionable: one patient for RPE65 gene therapy and two patients with WDR19 Senior-Løken syndrome for early preparation for kidney and liver transplantations. Conclusions: This study demonstrated that approximately 4% of patients may have dual molecular diagnoses, and 6% were surgically or medically actionable in LCA. Therefore, accurate molecular diagnosis and careful interpretation of next-generation sequencing results can be of great help in patients with LCA. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Molecular Vision | - |
dc.relation.isPartOf | MOLECULAR VISION | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Ophthalmology (안과학교실) | - |
dc.contributor.googleauthor | Dongheon Surl | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Junwon Lee | - |
dc.contributor.googleauthor | Suk Ho Byeon | - |
dc.contributor.googleauthor | Sueng-Han Han | - |
dc.contributor.googleauthor | Hyun Taek Lim | - |
dc.contributor.googleauthor | Jinu Han | - |
dc.contributor.localId | A01849 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A03179 | - |
dc.contributor.localId | A04182 | - |
dc.contributor.localId | A04303 | - |
dc.contributor.localId | A04329 | - |
dc.relation.journalcode | J02272 | - |
dc.identifier.eissn | 1090-0535 | - |
dc.identifier.pmid | 32165824 | - |
dc.contributor.alternativeName | Byeon, Suk Ho | - |
dc.contributor.affiliatedAuthor | 변석호 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.contributor.affiliatedAuthor | 이준원 | - |
dc.contributor.affiliatedAuthor | 최종락 | - |
dc.contributor.affiliatedAuthor | 한승한 | - |
dc.contributor.affiliatedAuthor | 한진우 | - |
dc.citation.volume | 26 | - |
dc.citation.startPage | 26 | - |
dc.citation.endPage | 35 | - |
dc.identifier.bibliographicCitation | MOLECULAR VISION, Vol.26 : 26-35, 2020-02 | - |
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