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FBN2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

FBN2 gene

The FBN2 gene provides instructions for making fibrillin-2, a protein that plays a key role in directing the assembly of elastic fibers during embryonic development.

Normal Function

The FBN2 gene provides instructions for making a large protein called fibrillin-2. Like fibrillin-1, this protein is transported into the extracellular matrix, where it binds to other proteins to form threadlike filaments called microfibrils. These microfibrils contribute to elastic fibers, which allow skin, ligaments, and blood vessels to stretch. Fibrillin-2 is particularly important for directing the assembly of these fibers during embryonic development. Additionally, microfibrils store transforming growth factor-beta (TGF-beta) proteins, keeping them inactive until they are needed for tissue growth and repair.

Health Conditions Related to Genetic Changes

Congenital contractural arachnodactyly

More than 20 mutations in the FBN2 gene have been found to cause congenital contractural arachnodactyly. Most of these mutations involve the substitution of the amino acid cysteine with a different amino acid, which alters the structure or function of the fibrillin-2 protein. Other mutations disrupt the gene's instructions, preventing the proper production of the protein.

These mutations reduce the amount of fibrillin-2 available to form microfibrils. The resulting decrease in microfibril formation weakens elastic fibers and causes the overactivation of TGF-beta growth factors. These combined effects lead to the characteristic signs and symptoms of congenital contractural arachnodactyly.

Other Names for This Gene

  • CCA
  • DA9
  • FBN2_HUMAN
  • fibrillin 2 (congenital contractural arachnodactyly)

Frequently Asked Questions

Management is multidisciplinary. Physical therapy and occupational therapy help maintain range of motion and strength. Serial casting or splinting can improve joint flexibility. For scoliosis, bracing or surgical correction may be required depending on curve severity. Pain management and monitoring for respiratory complications are also important.
Infants with this condition often present with joint contractures that are visible at birth, such as limited elbow or knee movement, and a characteristic “cable‑like” appearance of the skin. They may also have a long, slender body habitus, a prominent forehead, and a small, narrow chest. Early detection is usually based on physical examination and observation of these features.
Genetic testing is the definitive method. A DNA sample (usually from a blood draw) is analyzed by next‑generation sequencing panels that include FBN2. If a variant is found, it is compared against databases and sometimes confirmed by Sanger sequencing. Functional studies are rarely needed for diagnosis.
Pregnancy in carriers of FBN2 mutations is generally safe, but there is a 50 % chance of passing the mutation to offspring. Prenatal testing (chorionic villus sampling or amniocentesis) can detect the mutation early. Parents should discuss genetic counseling, potential pregnancy complications, and early neonatal care with a specialist.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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