FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into
microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all …

Thousands of mutations are identified yearly. Although many directly affect protein
expression, an increasing proportion of mutations is now believed to influence mRNA …

Fibrillin-1 is a major component of the extracellular microfibrils, where it interacts with other
extracellular matrix proteins to provide elasticity to connective tissues, and regulates the …

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a
strong genetic basis, few genes have been associated with AIS and the pathogenesis …

Rationale: Thoracic aortic aneurysm (TAA) leads to substantial mortality worldwide. Familial
and syndromic TAAs are highly correlated with genetics. However, the incidence of sporadic …

Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic
aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the …

Purpose: Marfan syndrome is a systemic disorder that typically involves FBN1 mutations and
cardiovascular manifestations. We investigated FBN1 genotype–phenotype correlations with …

Simultaneous analysis of multiple genes using next‐generation sequencing (NGS)
technology has become widely available. Copy‐number variations (CNVs) in disease …

Purpose To create a practical desk reference for clinicians focused on the differential
diagnosis of individuals presenting with features that suggest an inherited disorder of …

Mutations identified in the fibrillin-1 (FBN1) gene have been associated with Marfan
syndrome (MFS). Molecular analysis of the gene is classically performed in probands with …