Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

ABSTRACT:

Background

Among the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity causes pain and respiratory impairment and is a great hindrance to patients' daily activities. The present study elucidates the genetic risk factors for the development of severe scoliosis in patients with Marfan syndrome.

Methods

We retrospectively evaluated 278 patients with pathogenic or likely pathogenic FBN1 variants. The patients were divided into those with (n=57) or without (n=221) severe scoliosis. Severe scoliosis was defined as (1) patients undergoing surgery before 50 years of age or (2) patients with a Cobb angle exceeding 50° before 50 years of age. The variants were classified as protein-truncating variants (PTVs), which included variants creat

SUBMITTER: Taniguchi Y 

PROVIDER: S-EPMC9811093 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature