A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

K C Park; H O Choi; K H Park; K H Kim; H C Eun

doi:10.1007/s100380050016

A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

J Hum Genet. 2000;45(2):84-5. doi: 10.1007/s100380050016.

Authors

K C Park¹, H O Choi, K H Park, K H Kim, H C Eun

Affiliation

¹ Department of Dermatology, Seoul National University College of Medicine, Chongno-gu, Korea. [email protected]

PMID: 10721668
DOI: 10.1007/s100380050016

Abstract

We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Arginine / genetics*
Base Sequence
Cafe-au-Lait Spots / genetics
Codon, Nonsense
DNA Mutational Analysis
Female
Humans
Korea
Neurofibromatosis 1 / genetics*
Neurofibromin 1
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Proteins / genetics*

Substances

Codon, Nonsense
Neurofibromin 1
Proteins
Arginine