J Korean Cancer Assoc.  1998 Aug;30(4):790-799.

Germline Mutations of the NF2 Gene in Korean Neurofibromatosis 2 Patient

• Yang HJ
• Won YJ
• Park KJ
• Jung HW
• Choi KS
• Park JG

Abstract

PURPOSE
Neurofibromatosis 2(NF2) is an autosomal dominant disease characterized by development of bilateral acoustic neuroma and various central nervous system tumors such as meningiomas, ependymomas, and schwannomas. Recent cloning of the gene responsible for NF2, the NF2 gene, permits the presymptomatic genetic diagnosis of affected individuals by direct analysis of the gene. This paper was intended to identify germline mutations in Korean NF2 patients.
MATERIALS AND METHODS
We collected blood samples from 15 clinically diagnosed NF2 patients treated at the Department of Neurosurgery, Seoul National University Hospital. Purified genomic DNA samples were analyzed for mutations of the NF2 gene by using polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) method followed by direct DNA sequencing.
RESULTS
We were able to identify germline mutation of the NF2 gene in one patient. The mutation identified was 1 base pair deletion(A) at codon 318, resulting in premature stop codon due to frameshift.
CONCLUSION
Identification of the germline mutation in NF2 gene should enable us to test all individual family members at risk to determine whether or not they carry the mutant NF2 gene.

Keyword

Neurofibromatosis type 2; NF2 gene; Germline mutation

MeSH Terms

Base Pairing
Central Nervous System Neoplasms
Clone Cells
Cloning, Organism
Codon
Codon, Nonsense
Diagnosis
DNA
Ependymoma
Genes, Neurofibromatosis 2*
Germ-Line Mutation*
Humans
Meningioma
Neurilemmoma
Neurofibromatoses*
Neurofibromatosis 2*
Neuroma, Acoustic
Neurosurgery
Seoul
Sequence Analysis, DNA
Codon
Codon, Nonsense
DNA