Schwannomatosis and LZTR1
Symptoms and Diagnosis of Schwannomatosis
Symptoms of Schwannomatosis can vary among individuals, especially where their schwannomas form. Most commonly they experience numbness, tingling, and weakness. [2] The absence of these symptoms does not eliminate the possibility of SWN. SWN may be able to be identified by the protruding of tumors that will present as lumps or swollen areas. The location of the tumors may also cause additional symptoms such as:
SWN is diagnosed if a person that is 30 years of age or older has two or more schwannomas not located in the skin. There is no known physical or genetic signs of Neurofibromatosis 2 in the individual or in a primary blood relative such as a parent, sibling, or child. [2]
- Difficulty urinating or bowl dysfunction
- Facial weakness
- Headaches
- Vision changes
- Weakness [2]
SWN is diagnosed if a person that is 30 years of age or older has two or more schwannomas not located in the skin. There is no known physical or genetic signs of Neurofibromatosis 2 in the individual or in a primary blood relative such as a parent, sibling, or child. [2]
Diagnosis
Diagnosis is based on clinical and neuroimaging studies.
Diagnosis is based on clinical and neuroimaging studies.
What cause Schwannomatosis?
SWN is caused by mutations in either two genes. This project focuses on the gene, LZTR1.
Most cases of SWN are sporadic, meaning there was no previous history of SWN in family members.
Familial cases of SWN, which make up 15-25% of the cases, have an autosomal dominant pattern of inheritance. One copy of the LZTR1 gene in every person's cell is mutated, which increases their risk of developing schwannomas. [1]
Most cases of SWN are sporadic, meaning there was no previous history of SWN in family members.
Familial cases of SWN, which make up 15-25% of the cases, have an autosomal dominant pattern of inheritance. One copy of the LZTR1 gene in every person's cell is mutated, which increases their risk of developing schwannomas. [1]
References
- MedlinePlus, NIH. “Schwannomatosis: Medlineplus Genetics.” MedlinePlus, 2017, medlineplus.gov/genetics/condition/schwannomatosis/.
- Hopkins, John. “Schwannomatosis.” Schwannomatosis | Johns Hopkins Medicine, 10 Mar. 2022, www.hopkinsmedicine.org/health/conditions-and-diseases/neurofibromatosis/schwannomatosis.
This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.