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Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
DC Field | Value | Language |
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dc.contributor.author | 박형준 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 최영철 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2024-07-18T05:14:37Z | - |
dc.date.available | 2024-07-18T05:14:37Z | - |
dc.date.issued | 2024-09 | - |
dc.identifier.issn | 2234-3806 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/200037 | - |
dc.description.abstract | Background: Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy that mainly affects skeletal muscle. FSHD1 accounts for 95% of all FSHD cases and can be diagnosed based on the pathogenic contraction of the D4Z4-repeat array on chromosome 4q35. Genetic diagnosis of FSHD1 is challenging because of the large size and repetitive nature of the D4Z4 region. We evaluated the clinical applicability of optical genome mapping (OGM) for the genetic diagnosis of FSHD1. Methods: We included 25 individuals with clinically confirmed or suspected/probable FSHD and their families. Ultra-high-molecular-weight DNA from peripheral blood was labeled, stained, and imaged using a single-molecule OGM platform (Bionano Genomics Saphyr system). D4Z4 repeat size and haplotype information were analyzed using the manufacturer's dedicated pipeline. We also compared the workflow and test time between Southern blot analysis and OGM. Results: We obtained concordant OGM and Southern blot results with 10 samples from patients with clinically confirmed FSHD. The D4Z4 repeat size differed within 1 unit between the Southern blot analysis and OGM. Among nine patients with clinically suspected or probable FSHD, six patients were confirmed to have pathogenic contractions by OGM. In our cohort, one de novo mosaic FSHD1 patient was successfully diagnosed with OGM. Moreover, OGM has a more straightforward and less time-consuming workflow than Southern blot analysis. Conclusions: OGM enables accurate and reliable detection of pathogenic contraction of the D4Z4-repeat array and is a valuable tool for the genetic diagnosis of FSHD1. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Korean Society for Laboratory Medicine | - |
dc.relation.isPartOf | ANNALS OF LABORATORY MEDICINE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Blotting, Southern | - |
dc.subject.MESH | Chromosome Mapping | - |
dc.subject.MESH | Chromosomes, Human, Pair 4 / genetics | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Haplotypes | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Muscular Dystrophy, Facioscapulohumeral* / diagnosis | - |
dc.subject.MESH | Muscular Dystrophy, Facioscapulohumeral* / genetics | - |
dc.title | Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | Yeeun Shim | - |
dc.contributor.googleauthor | Jieun Seo | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.contributor.googleauthor | Hyung Jun Park | - |
dc.identifier.doi | 10.3343/alm.2023.0437 | - |
dc.contributor.localId | A01758 | - |
dc.contributor.localId | A02108 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00164 | - |
dc.identifier.eissn | 2234-3814 | - |
dc.identifier.pmid | 38724225 | - |
dc.subject.keyword | D4Z4 repeat | - |
dc.subject.keyword | FSHD1 | - |
dc.subject.keyword | Facioscapulohumeral muscular dystrophy | - |
dc.subject.keyword | Optical mapping | - |
dc.contributor.alternativeName | Park, Hyung Jun | - |
dc.contributor.affiliatedAuthor | 박형준 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.contributor.affiliatedAuthor | 최영철 | - |
dc.contributor.affiliatedAuthor | 최종락 | - |
dc.citation.volume | 44 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 437 | - |
dc.citation.endPage | 445 | - |
dc.identifier.bibliographicCitation | ANNALS OF LABORATORY MEDICINE, Vol.44(5) : 437-445, 2024-09 | - |
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