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

• Authors: M. Laniewski-Wollk , M. Gos , A. Koziarski , A. Szpecht-Potocka
• Languages of publication: EN

Abstracts

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.

Keywords

EN

MUTATION; NEUROFIBROMATOSIS

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2008
• Volume: 49
• Issue: 3
• Pages: 297-300

Contributors

author

M. Laniewski-Wollk

author

M. Gos

author

A. Koziarski

author

A. Szpecht-Potocka

• Document Type: ARTICLE
• Publication order reference: A. Szpecht-Potocka, Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01?211 Warsaw, Poland