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The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing
DC Field | Value | Language |
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dc.contributor.author | 서유리 | - |
dc.contributor.author | 한승한 | - |
dc.contributor.author | 한진우 | - |
dc.date.accessioned | 2023-08-09T06:40:19Z | - |
dc.date.available | 2023-08-09T06:40:19Z | - |
dc.date.issued | 2023-06 | - |
dc.identifier.issn | 1381-6810 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/195926 | - |
dc.description.abstract | Background: Single-stranded DNA-binding protein 1 (SSBP1) plays an essential role in mitochondrial DNA (mtDNA) replication and maintenance, as well as development of retina. Here, we describe the clinical findings and genetic basis of a family with two members affected with bilateral optic atrophy. Materials and methods: Clinical data were retrospectively collected from an electronic medical record system. Genetic results were obtained using exome sequencing (ES) and genome sequencing (GS). Results: A 36-year-old man presented with low vision in both eyes since early childhood, with a best-corrected visual acuity of 20/500 in both eyes. He exhibited generalized optic atrophy and diffuse retinal nerve fiber layer thinning without retinal degeneration in both eyes. The family history was consistent with autosomal dominant traits. ES was performed; however, we did not identify any pathogenic variants in the known dominant optic atrophy genes. Subsequently, GS was performed, and it revealed a novel heterozygous c.364A>G p.(Lys122Glu) variant in SSBP1. In silico prediction supported it as deleterious, while segregation analysis detected it in his affected mother and his unaffected sister. No foveopathy or retinal degeneration was observed in the patient's family members. Conclusions: We report a novel pathogenic heterozygous SSBP1 variant in a family with autosomal dominant optic atrophy and incomplete penetrance. Furthermore, we demonstrated that GS is advantageous over ES even for the discovery of coding variants, providing uniform coverage. Therefore, GS should be emphasized to improve the molecular diagnostic rate of inherited optic neuropathy. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Aeolus Press | - |
dc.relation.isPartOf | OPHTHALMIC GENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | DNA, Mitochondrial / genetics | - |
dc.subject.MESH | DNA-Binding Proteins / genetics | - |
dc.subject.MESH | Exome Sequencing | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mitochondrial Proteins / genetics | - |
dc.subject.MESH | Optic Atrophy* / genetics | - |
dc.subject.MESH | Optic Atrophy, Autosomal Dominant* / pathology | - |
dc.subject.MESH | Retinal Degeneration* / diagnosis | - |
dc.subject.MESH | Retinal Degeneration* / genetics | - |
dc.subject.MESH | Retrospective Studies | - |
dc.title | The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Ophthalmology (안과학교실) | - |
dc.contributor.googleauthor | Jae Won Jun | - |
dc.contributor.googleauthor | Yuri Seo | - |
dc.contributor.googleauthor | Sueng-Han Han | - |
dc.contributor.googleauthor | Jinu Han | - |
dc.identifier.doi | 10.1080/13816810.2022.2109685 | - |
dc.contributor.localId | A04758 | - |
dc.contributor.localId | A04303 | - |
dc.contributor.localId | A04329 | - |
dc.relation.journalcode | J03734 | - |
dc.identifier.eissn | 1744-5094 | - |
dc.identifier.pmid | 35946466 | - |
dc.identifier.url | https://www.tandfonline.com/doi/full/10.1080/13816810.2022.2109685 | - |
dc.subject.keyword | SSBP1 | - |
dc.subject.keyword | dominant optic atrophy | - |
dc.subject.keyword | genome sequencing | - |
dc.subject.keyword | incomplete penetrance | - |
dc.subject.keyword | inherited optic neuropathy | - |
dc.subject.keyword | optic atrophy | - |
dc.contributor.alternativeName | Seo, Yuri | - |
dc.contributor.affiliatedAuthor | 서유리 | - |
dc.contributor.affiliatedAuthor | 한승한 | - |
dc.contributor.affiliatedAuthor | 한진우 | - |
dc.citation.volume | 44 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 286 | - |
dc.citation.endPage | 290 | - |
dc.identifier.bibliographicCitation | OPHTHALMIC GENETICS, Vol.44(3) : 286-290, 2023-06 | - |
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