Identification of three neurofibromatosis type 2 (NF2) gene mutations in vestibular schwannomas |
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| Authors: | Jesús Sainz Karla Figueroa Michael E Baser Stefan-Matthias Pulst |
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| Institution: | (1) Neurogenetics Laboratory and Division of Neurology, Cedars-Sinai Medical Center, University of California at Los Angeles, 8700 Beverly Boulevard, 90048 Los Angeles, CA, USA;(2) Present address: Department of Neurology, VA Medical Center-UCLA Medical School, UCLA, 11301 Wilshire Blvd (W127b), 90073 Los Angeles, CA, USA |
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| 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 NF2 gene. We detected mutations in three of 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. |
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