A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
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.
Park
K C
KC
Department of Dermatology, Seoul National University College of Medicine, Chongno-gu, Korea. kcpark@medicine.snu.ac.kr
Choi
H O
HO
Park
K H
KH
Kim
K H
KH
Eun
H C
HC
D000328:Adult; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D019080:Cafe-au-Lait Spots / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007723:Korea; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
D018389:Codon, Nonsense; D025542:Neurofibromin 1; D011506:Proteins; D001120:Arginine