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Article

A novel intron mutation in FBN-1 gene identified in a pregnant woman with Marfan syndrome.

Hereditas - 6 Jan 2021

Wu Yuduo, Sun Hairui, He Yihua, Zhang Hongjia

Abstract excerpt

Marfan syndrome (MFS) is one of the most common hereditary connective tissue diseases, with great individual heterogeneity. We reported a Chinese pregnancy with Clinical diagnosis of MFS, performed whole-exome sequencing, and screened for the genetic abnormality. We also conducted an in vitro mini-gene splicing assay to demonstrate the predicted harmful effects of an intronic variant of FBN-1. Exome sequencing...

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Identifiers

PMID: 33407909
DOI: 10.1186/s41065-020-00170-w
PMCID: PMC7788922

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