A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

ABSTRACT:

Background

Marfan syndrome (MFS) is an autosomal dominant multisystem connective tissue disorder with increased risk of aortopathy with a high risk of subsequent life-threatening aortic dissection. Diagnosing this condition is reliant on recognizing clinical features and genetic testing for confirming diagnosis, using the revised Ghent criteria.

Case summary

We identified a 49-year-old patient who presented with dyspnoea, with Marfan syndrome (MFS) and a previously unreported variant in the fibrillin-1 gene (FBN1), designated c.7016G>C. Prior to identifying the new gene variant, this patient did not meet the revised Ghent criteria for MFS diagnosis. We present clinical and molecular evidence supporting the likely pathogenic nature of this variant, leading to earlier t

SUBMITTER: Suliman A 

PROVIDER: S-EPMC8972828 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature