Mutations of the NF1 gene in Korean Neurofibromatosis type 1 patients.
10.5021/ad.2001.13.2.102
- Author:
Kyoung Chan PARK
;
Hyun Ok CHOI
;
Won Suk HAN
;
Ji Hwan HWANG
;
Kyu Han KIM
;
Jin Ho CHUNG
;
Hee Chul EUN
- Publication Type:Original Article
- Keywords:
Mutations;
Neurofibromatosis;
Korean
- MeSH:
Alleles;
Base Pairing;
Codon;
Codon, Nonsense;
Exons;
Genes, Neurofibromatosis 1*;
Humans;
Neural Crest;
Neurofibromatoses*;
Neurofibromatosis 1*;
Neurofibromin 1;
Polymerase Chain Reaction;
Sequence Analysis;
Sequence Analysis, DNA
- From:Annals of Dermatology
2001;13(2):102-105
- CountryRepublic of Korea
- Language:English
-
Abstract:
BACKGROUND: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders and is characterized by abnormalities in multiple tissues derived from the neural crest. OBJECTIVES: We analyzed the presence of mutations of NF1 gene in unrelated 56 Korean NF-1 patients. METHODS: Mutations were detected by polymerase chain reaction, single strand conformational polymorphism analysis and direct DNA sequencing. RESULTS: We found five different kinds of mutations in the NF1 gene from 5 out of 56 unrelated Korean NF1 patients. Sequence analysis revealed a nucleotide substitution at codon 1276 of exon 22 (CGA to TGA, R1276X), 4 by insertion at codon 1270 of exon 22 (3809 ins TGGA), a base pair deletion at codon 1398 of exon 24 (4192 del G), 4 by deletion at codon 1638 of exon 28 (4914 del CTCT), and a base pair substitution at codon 1947 of exon 31 (CGA to TGA, R1947X). All of these mutations resulted in premature termination of the mutant alleles. CONCLUSION: Results showed that common consequences of NF1 mutations are introduction of a premature stop codon, and these mutant genes may encode truncated forms of neurofibromin.
