Marfan syndrome (MFS), caused by pathogenic variants of FBN1 (fibrillin-1), is a systemic connective tissue disorder with variable phenotypes and treatment responsiveness depending on the variant. However, a significant number of individuals with MFS remain genetically unexplained. In this study, we report novel pathogenic intronic variants in FBN1 in two unrelated families with MFS.

中文翻译：

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克服通过全基因组测序识别 FBN1 深层内含子变异相关的挑战

马凡综合征 (MFS) 由FBN1 (fibrillin-1)致病性变异引起，是一种全身性结缔组织疾病，其表型和治疗反应因变异而异。然而，相当多的 MFS 患者仍无法从基因角度进行解释。在这项研究中，我们报告了两个不相关的 MFS 家族中FBN1的新致病性内含子变异。