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Neurofibromatosis is a genetic disease that severely affects the nervous system. It is an autosomal dominant disorder characterized by multiple tumors appearing on nerve tissues, including the peripheral nerves, spinal cord, and the brain (Tamura, 2021). According to Cummings (2014), 1 in 3,000 people are diagnosed with neurofibromatosis at birth. However, not all diagnosed persons have a history of the disease in the family. The condition has specific clinical features and a well-known pattern of inheritance.
There are three types of neurofibromatosis with different clinical features. Neurofibromatosis type I patients experience brown skin pigmentation, skinfold freckling, nerve tumors, and nodules in the iris (Tamura, 2021). Type II presents in the affected persons with hearing loss, visual impairment, muscle wasting, nerve damage, and skin tumors (Tamura, 2021). Type III, known as Schwannomatosis, is characterized by muscle weakness and numbness, nerve tumors, and chronic pain (Tamura, 2021). Thus, the three types of neurofibromatosis have distinct clinical features and can be easily distinguished from each other.
Neurofibromatosis disorder can be an inherited disorder or caused by mutations in the NF1 gene. According to Corsello et al. (2018), the disease is characterized by an autosomal dominant inheritance pattern with wide phenotypical variability. The condition is passed down from parent to offspring, and persons diagnosed with neurofibromatosis often have an affected parent. Thus, several generations of one family can be impacted by the disease. However, the NF1 gene has a high mutation rate of approximately 1 in 10,000 (1 × 10−4) copies of the gene (Cummings, 2014). Therefore, as one of the highest rates of mutation in humans, the gene can mutate, affecting persons with no previous history of the condition in the family. In summary, neurofibromatosis is an autosomal dominant genetic condition affecting the nervous system of the patients.
References
Corsello, G., Antona, V., Serra, G., Zara, F., Giambrone, C., Lagalla, L., Piccione, M., & Piro, E. (2018). Clinical and molecular characterization of 112 single-center patients with neurofibromatosis type 1.Italian Journal of Pediatrics, 44(1), 1–7. Web.
Cummings, M. (2014). Human heredity: Principles and issues (10th ed.). Cengage Learning.
Tamura, R. (2021). Current understanding of neurofibromatosis type 1, 2, and Schwannomatosis.International Journal of Molecular Sciences, 22(11), 5850–5867. Web.
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