Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.

ABSTRACT:

Background

Marfan syndrome is a genetic connective tissue disorder affecting skeletal, ocular, and cardiovascular organ systems. Previous research found that pathogenic variants clustered in exons 24-32 of fibrillin-1 (FBN1) gene result in more severe clinical phenotypes. Furthermore, genotype-phenotype correlation studies suggested that more severe cardiovascular phenotypes were related to variants held responsible for haploinsufficiency. Our objective was to analyze the differences in clinical manifestations and genotypes of individuals with early-onset Marfan syndrome and to assess their impact on management strategies.

Methods

We analyzed clinical and genetic data of a new patient with early-onset Marfan syndrome together with 51 previously reported ones in the PubMed da

SUBMITTER: Kemezyte A 

PROVIDER: S-EPMC10612290 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature