Relationship between the type and position of mutation in the FBN1 gene and clinical manifestations of Marfan syndrome in children
Year: 2025
Type: article
Study design: Observational Study
Abstract: For the first time in a Russian cohort of children, the association between the type and localization of the FBN1 gene mutation and the severity of clinical manifestations was demonstrated: LoF mutations lead to greater damage to the cardiovascular and skeletal systems; missense mutations lead to greater damage to the eyes. Mutations in exons 1-10 lead to the earliest onset of skeletal changes (foot and chest deformities), mutations in exons 11-20 - to the earliest appearance of lens ectopia, with less severe dolichostenomelia and less frequent formation of aortic dilatation. Mutations in exons 21-35 are accompanied by the earliest manifestation of spinal deformity. Mutations in exons 51-66 less often lead to lens ectopia.
Source: Yakut Medical Journal
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4408800140