Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencingopen access
- Authors
- Shin, Young-Lim; Park, You Na; Jang, Mi-Ae
- Issue Date
- Mar-2020
- Publisher
- 대한의학회
- Keywords
- Ehlers-Danlos Syndrome; Hypotonia; Scoliosis; Joint Laxity
- Citation
- Journal of Korean Medical Science, v.35, no.10, pp 1 - 7
- Pages
- 7
- Journal Title
- Journal of Korean Medical Science
- Volume
- 35
- Number
- 10
- Start Page
- 1
- End Page
- 7
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/2993
- DOI
- 10.3346/jkms.2020.35.e96
- ISSN
- 1011-8934
1598-6357
- 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.
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Collections - College of Medicine > Department of Clinical Pathology > 1. Journal Articles
- College of Medicine > Department of Pediatrics > 1. Journal Articles
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