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Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2

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Laniewski-Wollk M., Gos M., Koziarski A., Szpecht-Potocka A.
Journal of Applied Genetics
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2008
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vol. 49
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issue 3
297-300
EN
Point mutation and loss of heterozygosity (LOH) analyses were performed in 12 Polish patients with a classic symptom of NF2 ? bilateral vestibular schwannomas (BVS). In 5 patients (41.7%), germline mutations were found in the NF2 gene: 2 previously reported substitutions (c.592C>T and c.52C>T) and 3 novel mutations (c.1001_1002insG, c.1029_1030insCC, c.774_778dupGAATG). In addition, LOH analysis of 30 tumour samples from 10 patients revealed a molecular basis of NF2 in 3 patients (25%) that did not have any germline mutation. The molecular defects in sporadic cases of NF2 are still being discussed.
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