Key Publication
Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
Gläser Lab
University of Freiburg
Genes, Nov 21, 2022;12(11):1836.
doi: https://doi.org/10.3390/genes12111836
Key Points:
- Case report of a family with clinically diagnosed Marfan syndrome with no pathogenic variants identified on NGS analysis of FBN1 gene, but with a reciprocal balanced translocation between chromosomes 2 and 15
- OGM was performed and mapped the breakpoint within the FBN1 gene on chromosome 15 — later confirmed by targeted sequencing — disrupting the gene and likely explaining the observed phenotype
- First report of a reciprocal translocation in the FBN1 gene associated with a typical Marfan syndrome presentation”
