Neurofibromatosis Type 1 (NF1)
Description
Neurofibromatosis Type 1 (NF1), also known as von Recklinghausen‘s disease, is a genetic disorder that affects the growth and development of nerve tissue. It is caused by a mutation in the NF1 gene, which is responsible for producing a protein called neurofibromin. This protein plays a crucial role in cell growth and development, and mutations in the NF1 gene can lead to the formation of benign tumors, known as neurofibromas, along the nerves throughout the body.
Genes Involved
The NF1 gene is located on chromosome 17 and plays a crucial role in regulating cell growth and development. Mutations in this gene can lead to the development of Neurofibromatosis Type 1 (NF1).
Recognizing the Signs and Symptoms
Neurofibromatosis Type 1 (NF1) can manifest in a variety of ways, with symptoms ranging from mild to severe. Common signs and symptoms include:
- Neurofibromas: Soft, fleshy tumors that grow along the nerves and can appear anywhere on the body, including the skin, brain, and spinal cord.
- Café-au-lait spots: Flat, light brown birthmarks that are usually present at birth or develop early in childhood.
- Freckles in the armpits and groin: These are often referred to as axillary freckling or inguinal freckling.
- Lisch nodules: Benign tumors in the iris (colored part) of the eye.
- Optic nerve glioma: A benign tumor that affects the optic nerve, which can cause vision problems.
- Bone abnormalities: These may include scoliosis (curvature of the spine), bowing of long bones, and thinning of the bone.
- Learning disabilities: Individuals with NF1 may have learning disabilities or developmental delays.
- Seizures: In some cases, individuals with NF1 may experience seizures.
Causes
Neurofibromatosis Type 1 (NF1) is caused by a mutation in the NF1 gene. This mutation can be inherited from a parent or can occur spontaneously during the development of the embryo.
Inheritance/recurrence risk
NF1 is an autosomal dominant disorder, meaning that only one copy of the mutated gene is needed for a person to develop the condition. If one parent has NF1, there is a 50% chance that their child will inherit the condition. In some cases, the mutation can occur spontaneously (de novo) and not be inherited from a parent. The risk of having a child with NF1 increases if a parent has NF1, but it is still relatively low. The recurrence risk for future pregnancies can be estimated through genetic counseling.
