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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 1 - 7 (7page)
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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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참고문헌 (19)
참고문헌 신청
Beighton P / 1998 / Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997 / Am J Med Genet 77(1):31~37
Krane SM / 1972 / Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen / Proc Natl Acad Sci U S A 69(10):2899~2903
Pinnell SR / 1972 / A heritable disorder of connective tissue. Hydroxylysinedeficient collagen disease / N Engl J Med 286(19):1013~1020
Rohrbach M / 2011 / Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome(EDS VIA) : clinical, molecular and biochemical delineation / Orphanet J Rare Dis 6(1):46
Steinmann B / 1995 / Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI / Am J Hum Genet 57(6):1505~1508
Krane SM / 1972 / Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen / Proc Natl Acad Sci U S A 69(10):2899~2903
Pinnell SR / 1972 / A heritable disorder of connective tissue. Hydroxylysinedeficient collagen disease / N Engl J Med 286(19):1013~1020
Rohrbach M / 2011 / Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome(EDS VIA) : clinical, molecular and biochemical delineation / Orphanet J Rare Dis 6(1):46
Steinmann B / 1995 / Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI / Am J Hum Genet 57(6):1505~1508
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