NF2 variants are inherited in a dominant manner (caused by inheriting a mutated copy of the gene from one parent) and can be found in any part of the gene, except at the very end. The type of mutation can affect the severity of the symptoms.
Genetic testing is recommended to confirm a diagnosis. However, NF2-related schwannomatosis has a high frequency of mosaic disease (the person is the first affected family member and their NF2 mutation is not present in all cells), which can be missed on standard testing. Mosaic disease can be confirmed by genetic testing of DNA from two tumour that have been removed from separate parts of the body. When more than one separate tumour is not available, mosaic disease can sometimes be seen with more sensitive genetic testing on blood DNA.
NF2