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. 2005 Jan;42(1):45-8.
doi: 10.1136/jmg.2004.023705.

Multiple meningiomas: differential involvement of the NF2 gene in children and adults

D G R Evans  1 , C Watson, A King, A J Wallace, M E Baser
Affiliations

Multiple meningiomas: differential involvement of the NF2 gene in children and adults

D G R Evans et al. J Med Genet. 2005 Jan.

Abstract

Objective: To screen for NF2 mutations in people with meningiomas.

Methods: Lymphocyte or tumour DNA was analysed from 46 individuals from 36 families who presented with a meningioma at age < or =15 years without vestibular schwannoma (VS), or who had multiple meningiomas in adulthood before the diagnosis of VS.

Results: Eight of 13 people with meningioma and other features of neurofibromatosis 2 (NF2) had an identified constitutional NF2 mutation in blood DNA, but none of the other subjects had identified constitutional NF2 mutations.

Conclusions: Constitutional NF2 mutations are the most likely cause of meningioma in children and in people with a meningioma plus other non-VS features of NF2. Mosaic NF2 may be the cause of about 8% of multiple meningiomas in sporadic adult cases, but there are other causes in the majority of other such patients and in multiple meningioma in families.

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