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

• Main Authors: Yuping Niu (Author), Sexin Huang (Author), Zeyu Wang (Author), Peiwen Xu (Author), Lijuan Wang (Author), Jie Li (Author), Ming Gao (Author), Xuan Gao (Author), Yuan Gao (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...