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Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas
J Sainz1, K Figueroa, M E Baser
1Neurogenetics Laboratory, Cedars-Sinai Medical Center, University of California at Los Angeles 90048, USA.
Human Genetics
|January 1, 1996
Abstract:
Vestibular schwannomas (VSs) are common benign tumors of Schwann cell origin and are frequently found in patients with neurofibromatosis type 2 (NF2). We analyzed 15 sporadic VSs for mutations in the tumors, two of which contained loss of heterozygosity (LOH). One of the tumors contained a novel mutation, a 19-bp deletion in exon 4. The two other tumors contained an identical mutation, a complete exon 4 deletion. The exon 4 deletion represents the second most frequently reported mutation of the NF2 gene in VSs.