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Journal of Applied Genetics 49(3), 2008, pp. 297-300

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

Mikolaj Laniewski-Wollk, Monika Gos, Andrzej Koziarski, Agnieszka Szpecht-Potocka


Abstract: 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.

Key words: mutations, neurofibromatosis type 2, NF2

Correspondence: A. Szpecht-Potocka, Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland; e-mail: aspotocka@hotmail.com

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