New FBN1 Gene Mutation Found in Marfan Syndrome Family
Author Information
Author(s): Meng Bo, Li Hongyi, Yang Tao, Huang Shangzhi, Sun Xian, Yuan Huiping
Primary Institution: 2nd Affiliated Hospital of Harbin Medical University
Hypothesis
To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).
Conclusion
A novel p.S1235P mutation in FBN1 was identified as the causative mutation for Marfan syndrome in this family.
Supporting Evidence
- A novel heterozygous c.3703T>C change in exon 29 of FBN1 was detected.
- The mutation was present in affected family members but absent in healthy controls.
- The mutant residue is highly conserved among mammalian species.
Takeaway
Scientists found a new change in a gene that causes Marfan syndrome in a family, which helps understand the disease better.
Methodology
Genomic DNA was extracted from family members and healthy controls, and the FBN1 gene was sequenced to identify mutations.
Limitations
The study had a small sample size and was limited to one family.
Participant Demographics
The study involved a four-generation Chinese family with Marfan syndrome.
Want to read the original?
Access the complete publication on the publisher's website