Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
DC Field | Value | Language |
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dc.contributor.author | Shin, Young-Lim | - |
dc.contributor.author | Park, You Na | - |
dc.contributor.author | Jang, Mi-Ae | - |
dc.date.accessioned | 2021-08-11T08:37:12Z | - |
dc.date.available | 2021-08-11T08:37:12Z | - |
dc.date.issued | 2020-03 | - |
dc.identifier.issn | 1011-8934 | - |
dc.identifier.issn | 1598-6357 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/2993 | - |
dc.description.abstract | Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene PLOD1. We describe the rare cases of kEDS in Korean siblings with two novel compound heterozygous variants, c.926_934del (p.Leu309_Leu311del) and c.2170_2172del (p.Phe724del) in the PLOD1 gene. They had congenital hypotonia, joint laxity, skin hyperextensibility, Marfanoid habitus, high myopia and atrophic scarring. The younger sibling had an early-onset progressive kyphoscoliosis, while the older sibling showed mild scoliosis during childhood. Intrafamilial variability of the clinical severity and age of kyphoscoliosis onset observed in our cases. | - |
dc.format.extent | 7 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | 대한의학회 | - |
dc.title | Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing | - |
dc.type | Article | - |
dc.publisher.location | 대한민국 | - |
dc.identifier.doi | 10.3346/jkms.2020.35.e96 | - |
dc.identifier.scopusid | 2-s2.0-85081993887 | - |
dc.identifier.wosid | 000520016200006 | - |
dc.identifier.bibliographicCitation | Journal of Korean Medical Science, v.35, no.10, pp 1 - 7 | - |
dc.citation.title | Journal of Korean Medical Science | - |
dc.citation.volume | 35 | - |
dc.citation.number | 10 | - |
dc.citation.startPage | 1 | - |
dc.citation.endPage | 7 | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART002567143 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | General & Internal Medicine | - |
dc.relation.journalWebOfScienceCategory | Medicine, General & Internal | - |
dc.subject.keywordPlus | LYSYL HYDROXYLASE GENE | - |
dc.subject.keywordPlus | DEFICIENCY | - |
dc.subject.keywordPlus | SIBLINGS | - |
dc.subject.keywordPlus | PATIENT | - |
dc.subject.keywordPlus | VARIANT | - |
dc.subject.keywordAuthor | Ehlers-Danlos Syndrome | - |
dc.subject.keywordAuthor | Hypotonia | - |
dc.subject.keywordAuthor | Scoliosis | - |
dc.subject.keywordAuthor | Joint Laxity | - |
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