Case report
Open access
Jan 2026
A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene. Using whole‐exome sequencing (WES) in a Chinese MFS family, we identified a novel heterozygous nonsense variant FBN1:c.1415dup;p.(Tyr472Ter), which cosegregates with the disease phenotype and result...
Hang Shi, Xue-Jian Han, Shu-Kai Xing et al.
· Genetics Research · 0 citations