Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.

ABSTRACT: Marfan syndrome is an autosomal dominantly (AD)-inherited disease that results from pathogenic variants in the Fibrillin 1 (FBN1) gene, and is characterised by tall stature, elongated limbs and digits, lens abnormalities and aortic root dilatation, aneurysms and dissection, but milder forms also occur. Radiological imaging suggests that Marfan syndrome affects between one in 3000 and 5000 of the population. The aim of this study was to determine the population frequency of Marfan syndrome from the number of predicted pathogenic FBN1 changes found in a normal database. FBN1 variants were downloaded from gnomAD v2.1.1 and annotated with ANNOVAR. The population frequency was determined from the number of pathogenic null and structural variants, and the number of predicted pathogenic missense

SUBMITTER: Choi K 

PROVIDER: S-EPMC11920421 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature