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.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-151620
Responsible library:
WPRO
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Molecular Sequence Data
/
Exons
/
Frameshift Mutation
/
Amino Acid Sequence
/
Neurofibromatosis 2
/
Genes, Neurofibromatosis 2
/
Sequence Analysis, DNA
/
Mutation, Missense
/
RNA Splice Sites
/
3' Flanking Region
Type of study:
Prognostic study
Limits:
Adult
/
Aged
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
The Korean Journal of Laboratory Medicine
Year:
2010
Document type:
Article