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Article

A synonymous mutation in exon 39 of FBN1 causes exon skipping leading to Marfan syndrome.

Genomics - 1 Nov 2020

Li Mingjie, Lu Xinxin, Dong Jian, Yao Zuwu, Wu Yinlong, Rao Huiying, Huang Xiaoli, Chen Xijun, Huang Yi, Wu Yan'an

Abstract excerpt

Marfan syndrome is a heritable autosomal-dominant connective tissue disorder and it was typically caused by mutations in FBN1. However, the synonymous mutation was seldom recorded to be related to Marfan syndrome. Hereon, Multiplex ligation-dependent probe amplification failed to detect a copy number variant involving FBN1 but a synonymous mutation c.4773A > G (p.Gly1591Gly) was identified by NGS in exon 39. RNA...

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PMID: 32562828
DOI: 10.1016/j.ygeno.2020.06.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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