The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene [review]

Baser, Michael E. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2006. The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene [review]. Human Mutation 27 (4) , pp. 297-306. 10.1002/humu.20317

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Abstract

Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic meningioma. We surveyed the distributions of constitutional NF2 mutations in 823 NF2 families, 278 somatic NF2 mutations in USVS, and 208 somatic NF2 mutations in sporadic meningioma. Based on the available NF2 mutation data, the most dominant influence on the spectra of mutations in exons 1-15 are C>T transitions that change arginine codons (CGA) to stop codons (TGA) due to spontaneous deamination of methylcytosine to thymine in CpG dinucleotides. The paucity of reported mutations in exon 9 and the absence of reported mutations in exons 16 and 17 may be related to structure-function relationships in the NF2 protein.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Wiley-Blackwell
ISSN:	1059-7794
Last Modified:	25 Oct 2022 10:00
URI:	https://orca.cardiff.ac.uk/id/eprint/60790

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