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Korean J Lab Med. 2010 Apr;30(2):190-194. English. Original Article.
Seong MW , Yeo IK , Cho SI , Park CK , Kim SK , Paek SH , Kim DG , Jung HW , Park H , Kim SY , Kim JY , Park SS .
Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
Department of Neurosurgery, Seoul National University Hospital, Seoul, Korea.
Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.

BACKGROUND: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome caused by the NF2 tumor suppressor gene. However, the NF2 mutation characteristics in Korean patients are not sufficiently understood. In this study, we conducted a comprehensive mutational analysis in 7 Korean NF2 patients by performing direct sequencing and gene-dosage assessment. METHODS: We analyzed all exons and flanking regions of NF2 by direct sequencing and screened the deletions or duplications involving NF2 by multiplex ligation-dependent probe amplification. RESULTS: Four novel NF2 mutations, including 2 splice-site mutations (c.364-1G>A and c.886-3C>G), 1 frameshift mutation (c.524delA), and 1 missense mutation (c.397T>C; p.Cys133Arg), were identified in our patients. No large deletion or duplication was identified in our series. Subsequently, we identified an abnormal splicing product by using reverse transcription-PCR and direct sequencing in 2 patients with a novel splice-site mutation. The missense mutation c.397T>C was predicted to have harmful effects on protein function. CONCLUSIONS: The detection rate of NF2 mutations in Korean patients (57%) is similar to those in other populations. Our results provided a greater insight into the mutational spectrum of the NF2 gene in Korean subjects.

Copyright © 2019. Korean Association of Medical Journal Editors.