지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.12
- 수록면
- 1,129 - 1,134 (6page)
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초록· 키워드
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Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.
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참고문헌 (10)
참고문헌 신청
Sanger F / 1977 / DNA sequencing with chain-terminating inhibitors / Proc Natl Acad Sci U S A 74:5463~5467
Lohmann K / 2014 / Next generation sequencing and the future of genetic diagnosis / Neurotherapeutics 11:699~707
장미애 / 2015 / Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea / Annals of Laboratory Medicine 35(3):362~365
Tesson C / 2015 / Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology / Hum Genet 134:511~538
Pagon RA / 2016 / GeneReviews / University of Washington at Seattle
Lohmann K / 2014 / Next generation sequencing and the future of genetic diagnosis / Neurotherapeutics 11:699~707
장미애 / 2015 / Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea / Annals of Laboratory Medicine 35(3):362~365
Tesson C / 2015 / Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology / Hum Genet 134:511~538
Pagon RA / 2016 / GeneReviews / University of Washington at Seattle
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