NF2, as well as NF1, is an autosomal dominant
disease. In patients NF2 is registered less often, than NF1, in 1 of 50000
newborns. Gene NF2 is located in 22th chromosome (22q12) and codes synthesis of
tumoral growth suppressor – merlin protein, or schwannomin which functions as
membranous organizer and provides, first of all, construction and functioning of
a cellular skeleton. This protein has the greatest importance for proliferation
regulation of cells with neuroectodermal origins. If NF2 allelic gene is damaged
due to symmetric mutation or loss of heterozygosity in 22nd chromosome,
synthesis of normal merlin in a cell stops, dynamic balance of growth regulation
is shifted to proliferation, and therefore benign tumoral growth appears. NF2
gene has high penetrance. Practically in all of its carriers the disease
develops by 60 years. Developing at NF2 tumors are benign, but more biologically
aggressive, than at NF1.
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