Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 190-194, 2010.
Artigo
em Inglês
| WPRIM
| ID: wpr-151620
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Dados de Sequência Molecular
/
Éxons
/
Mutação da Fase de Leitura
/
Sequência de Aminoácidos
/
Neurofibromatose 2
/
Genes da Neurofibromatose 2
/
Análise de Sequência de DNA
/
Mutação de Sentido Incorreto
/
Sítios de Splice de RNA
/
Região 3'-Flanqueadora
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Idoso
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
The Korean Journal of Laboratory Medicine
Ano de publicação:
2010
Tipo de documento:
Artigo
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