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http://purl.uniprot.org/citations/20445339http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20445339http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20445339http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.org/dc/terms/identifier"doi:10.3343/kjlm.2010.30.2.190"xsd:string
http://purl.uniprot.org/citations/20445339http://purl.org/dc/terms/identifier"doi:10.3343/kjlm.2010.30.2.190"xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim S.K."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim S.K."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim S.Y."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim S.Y."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Park H."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Park H."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim J.Y."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim J.Y."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Jung H.W."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Jung H.W."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim D.G."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Kim D.G."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Park S.S."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Park S.S."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Paek S.H."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Paek S.H."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Seong M.W."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Seong M.W."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Park C.K."xsd:string
http://purl.uniprot.org/citations/20445339http://purl.uniprot.org/core/author"Park C.K."xsd:string
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