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The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Authors
Jeong, SY; Park, SJ; Kim, HJ
Citation
Journal of Korean medical science, 21(1):107-112, 2006
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations in the NF1 gene which consists of 57 exons and encodes a GTPase activating protein (GAP), neurofibromin. To date, more than 640 different NF1 mutations have been identified and registered in the Human Gene Mutation Database (HGMD). In order to assess the NF1 mutational spectrum in Korean NF1 patients, we screened 23 unrelated Korean NF1 patients for mutations in the coding region and splice sites of the NF1 gene. We have identified 21 distinct NF1 mutations in 22 patients. The mutations included 10 single base substitutions (3 missense and 7 nonsense), 10 splice site mutations, and 1 single base deletion. Eight mutations have been previously identified and thirteen mutations were novel. The mutations are evenly distributed across exon 3 through intron 47 of the NF1 gene and no mutational hot spots were found. This analysis revealed a wide spectrum of NF1 mutations in Korean patients. A genotype- phenotype correlation analysis suggests that there is no clear relationship between specific NF1 mutations and clinical features of the disease.
MeSH terms
AdolescentAdultChildChild, PreschoolDNA/chemistryDNA/geneticsDNA Mutational AnalysisGenotypeHumansInfantKoreaMiddle AgedMutation*Neurofibromatosis 1/genetics*Neurofibromatosis 1/pathologyNeurofibromin 1/genetics*Phenotype
DOI
10.3346/jkms.2006.21.1.107
PMID
16479075
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
정선용박상진김현주
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