Junkiert-Czarnecka Anna, Pilarska-Deltow Maria, Bąk Aneta, Heise Marta, Haus Olga
Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Postepy Dermatol Alergol. 2023 Feb;40(1):102-106. doi: 10.5114/ada.2022.124107. Epub 2023 Jan 13.
Hypermobile (hEDS) Ehlers-Danlos syndrome (EDS) is a non-inflammatory, autosomal dominant connective tissue disorder. hEDS, unlike other types of EDS, has no known genetic aetiology, so diagnosis is conducted based on a person's medical history, a physical examination, and exclusion of other types of EDS after genetic tests.
The present study was a sequencing analysis of the gene and the evaluation of the potential impact of variants of this gene on their role in the aetiology of the hypermobile type of EDS.
The study group included 100 hEDS patients of Polish origin. The SERPINH1 gene analysis was performed on genomic DNA (gDNA). In all patients, other types of EDS or other connective tissue disorders were excluded by testing them with NGS technology.
Among 100 tested patients, 4 different types of missense variants (heterozygote) were detected. All alterations were classified as benign according to ACMG guidelines.
Mutations in the gene have been described in a rare type of OI but have never been analysed in hypermobile Ehlers-Danlos syndrome. In our investigation among 100 hEDS patients, we did not identify pathogenic or likely pathogenic variants. Though only benign variants were detected, which play no role in the pathogenesis of hEDS, we should take into account mechanisms other than gene structure alterations, which may have an impact on collagen and other ECM protein transport.
高活动型（hEDS）埃勒斯-当洛综合征（EDS）是一种非炎症性常染色体显性结缔组织疾病。与其他类型的EDS不同，hEDS尚无已知的遗传病因，因此诊断基于个人病史、体格检查以及基因检测后排除其他类型的EDS。
本研究对[基因名称]进行测序分析，并评估该基因变异对其在高活动型EDS病因学中作用的潜在影响。
研究组包括100名波兰裔hEDS患者。对基因组DNA（gDNA）进行SERPINH1基因分析。通过下一代测序（NGS）技术检测，排除所有患者的其他类型EDS或其他结缔组织疾病。
在100名受试患者中，检测到4种不同类型的错义变异（杂合子）。根据美国医学遗传学与基因组学学会（ACMG）指南，所有变异均被分类为良性。
[基因名称]的突变已在一种罕见的成骨不全（OI）类型中被描述，但从未在高活动型埃勒斯-当洛综合征中进行分析。在我们对100名hEDS患者的调查中，未发现致病性或可能致病性变异。尽管仅检测到良性变异，其在hEDS发病机制中不起作用，但我们应考虑基因结构改变以外可能影响胶原蛋白和其他细胞外基质（ECM）蛋白转运机制。
