A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.

一个具有高流动性 Ehlers - Danlos 综合征临床特征的家庭中的一种新型 COL1A1 变体 ， 被证明是 COL1 相关的重叠障碍。

• 发表时间: Sep 2021
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.4128
• PMID: 34484741
• 文章类型: Case Reports
• 作者列表: Foy M,De Mazancourt P,Métay C,Carlier R,Allamand V,Gartioux C,Gillas F,Miri N,Jobic V,Mekki A,Richard P,Michot C,Benistan K

关键词: COL1A1; Ehlers‐Danlos Syndrome; connective tissue; hypermobile EDS; joint laxity

Abstract

COL1-related overlap disorder is a condition, which is not yet considered as part of the 2017 EDS classification. However, it should be investigated as an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.

摘要

COL1相关的重叠障碍是一种情况，这尚未被视为2017年EDS分类的一部分。然而,对于任何患有高移动性EDS的患者,应将其作为替代诊断进行研究.这可以提供适当的遗传咨询。