Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.

ABSTRACT:

Background

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.

Methods

We evaluated subjects with suspected MFS from two unrelated families using Sanger sequencing or multiplex ligation-dependent probe amplification of FBN1 and/or panel-based next-generation sequencing. As no pathogenic variants were identified, whole-genome sequencing was performed. Identified variants were analyzed by reverse transcription-PCR and targeted sequencing of FBN1 mR

SUBMITTER: Kim JA 

PROVIDER: S-EPMC10829686 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature