Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Abstract excerpt

Neurofibromatosis 2 (NF2), an autosomal dominant disorder that is characterised by tumours of cells of neural crest origin, is caused by inactivating mutations of the NF2 gene on chromosome 22q12.1,2 Bilateral vestibular schwannomas are the most frequent manifestation of the disease, but other central and peripheral nervous system schwannomas, cerebral meningiomas, and ocular abnormalities are also common.3–5 The...

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