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Korean J Lab Med. 2010 Apr;30(2):190-194. English. Original Article. https://doi.org/10.3343/kjlm.2010.30.2.190
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. sparkle@snu.ac.kr
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.
Abstract

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.

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