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Article

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

Journal of clinical laboratory analysis - 1 Jan 2024

Kim Jee Ah, Jang Mi-Ae, Jang Shin Yi, Kim Duk-Kyung, Kim Young-Gon, Kim Jong-Won, Park Taek Kyu, Jang Ja-Hyun

Abstract excerpt

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...

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Identifiers

PMID: 38234087
DOI: 10.1002/jcla.25009
PMCID: PMC10829686

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