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KMID : 0981820100300020190
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 2 p.190 ~ p.194
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Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations
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Seong Moon-Woo
Yeo Im-Kyung
Cho Sung-Im
Park Chul-Kee
Kim Seung-Ki
Paek Sun-Ha
Kim Dong-Gyu
Jung Hee-Won
Park Hyun-Woong
Kim So-Yeon
Kim Ji-Yeon
Park Sung-Sup
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Abstract
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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.
Conclusion: 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. (Korean J Lab Med 2010;30:190-4)
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KEYWORD
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Hereditary cancer, Neurofibromatosis type 2, NF2
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