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Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia.

Genes - 13 Nov 2022

Kim Kyung Hwa, Kim Tae Yun, Kim Soon Jin, Cho Yong Gon, Park Joonhong, Jang Woori

Abstract excerpt

Marfan syndrome (MFS) is a hereditary connective tissue disease whose clinical severity varies widely. Mutations of the FBN1 gene encoding fibrillin-1 are the most common genetic cause of Marfanoid habitus; however, about 10% of MFS patients are unaware of their genetic defects. Herein, we report a Korean patient with MFS and annuloaortic ectasia caused by an intronic c.5225-3C>G variant of the FBN1 gene...

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PMID: 36421783
DOI: 10.3390/genes13112108
PMCID: PMC9690865

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