A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

Abstract Background Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense v...

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Bibliographic Details
Main Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genetics
Subjects:
Marfan syndrome
FBN1 gene
Nonsense variant
Nonsense-mediated mRNA decay
Online Access:http://link.springer.com/article/10.1186/s12881-020-01148-1

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