Genetic mutation and aqueous humor metabolites alterations in a family with Marfan syndrome.

ABSTRACT: This study used four generations of a Chinese family to reveal the genetic etiology and ocular manifestation pathogenesis of Marfan syndrome (MFS) through whole genome sequencing (WGS) and metabolomics analysis. In the study, we explored the pathogenic gene variant and aqueous humor (AH) metabolites alterations of MFS. Using WGS, a novel heterozygous variant (NM_000138: c.G4192A, p.D1398 N) in the fibrilin-1 (FBN1) gene was identified. This variant was co-segregated with the phenotype and considered "deleterious" and highly conserved during evolution. The p.D1398 N variant is located in a cbEGF-like domain and predicted to lead to a new splice site, which might result in structural and functional changes to the FBN1 protein. FBN1 is highly expressed in the mouse cornea, conju

SUBMITTER: Wu J 

PROVIDER: S-EPMC10770601 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature