Atwal Clinic, Palm Beach, Florida, USA.
Department of Vascular Surgery, Mayo Clinic, Jacksonville, Florida, USA.
Am J Med Genet A. 2022 Jul;188(7):2192-2197. doi: 10.1002/ajmg.a.62745. Epub 2022 Apr 9.
The Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders with a worldwide prevalence of 1 in 2500 to 1 in 5000 births irrespective of sex or ethnicity. Fourteen subtypes of Ehlers-Danlos Syndrome (EDS) have been described, each with characteristic phenotypes and associated genes. Pathogenic variants in COL5A1 and COL5A2 cause the classical EDS subtypes. Pathogenic variants in COL3A1 cause vascular EDS. In this case report, we describe a patient with a phenotype resembling that of vascular EDS, caused by a novel pathogenic variant in COL5A1.
埃勒斯-当洛斯综合征（EDS）是一组遗传性结缔组织疾病，无论性别或种族，其全球患病率为每 2500 至 5000 例出生中有 1 例。已经描述了 14 种 EDS 亚型，每种亚型都有其特征表型和相关基因。COL5A1 和 COL5A2 中的致病性变异导致经典 EDS 亚型。COL3A1 中的致病性变异导致血管 EDS。在本病例报告中，我们描述了一名患者的表型类似于血管 EDS，由 COL5A1 中的新型致病性变异引起。
