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Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.

Bioscience reports - 23 Dec 2020

Wu Yuduo, Sun Hairui, Wang Jianbin, Wang Xin, Gong Ming, Han Lu, He Yihua, Zhang Hongjia

Abstract excerpt

Marfan syndrome (MFS) is a dominant monogenic disease caused by mutations in fibrillin 1 (FBN1). Cardiovascular complications are the leading causes of mortality among MFS. In the present study, a whole-exome sequencing of MFS in the Chinese population was conducted to investigate the correlation between FBNI gene mutation and MFS. Forty-four low-frequency harmful loci were identified for the FBN1 gene in HGMD...

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Identifiers

PMID: 33200202
DOI: 10.1042/BSR20203356
PMCID: PMC7724612

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