Molecular Characterization of the NF2 Gene in Korean Patients with Neurofibromatosis Type 2: A Report of Four Novel Mutations.
10.3343/kjlm.2010.30.2.190
- Author:
Moon Woo SEONG
1
;
Im Kyung YEO
;
Sung Im CHO
;
Chul Kee PARK
;
Seung Ki KIM
;
Sun Ha PAEK
;
Dong Gyu KIM
;
Hee Won JUNG
;
Hyunwoong PARK
;
So Yeon KIM
;
Ji Yeon KIM
;
Sung Sup PARK
Author Information
1. Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea. sparkle@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Hereditary cancer;
Neurofibromatosis type 2;
NF2
- MeSH:
3' Flanking Region/genetics;
5' Flanking Region/genetics;
Adult;
Aged;
Amino Acid Sequence;
Asian Continental Ancestry Group/*genetics;
Child, Preschool;
Exons;
Female;
Frameshift Mutation;
*Genes, Neurofibromatosis 2;
Humans;
Male;
Middle Aged;
Molecular Sequence Data;
*Mutation;
Mutation, Missense;
Neurofibromatosis 2/diagnosis/*genetics;
RNA Splice Sites;
Republic of Korea;
Sequence Analysis, DNA;
Young Adult
- From:The Korean Journal of Laboratory Medicine
2010;30(2):190-194
- CountryRepublic of Korea
- Language:English
-
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.
