Mutations in the gelsolin gene (GSN) can lead to a rare autosomal dominant disease known as familial amyloidosis, Finnish type (FAF), also known as gelsolin amyloidosis. This condition is characterized by the deposition of amyloid fibrils derived from gelsolin in various tissues, leading to symptoms such as corneal lattice dystrophy, cranial neuropathies, and cutis laxa. Additionally, altered gelsolin expression has been observed in various cancers, indicating its potential role as a biomarker for disease diagnosis and prognosis.
