Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
We report the mutation analysis of a Japanese patient diagnosed with infantile-type Alexander disease. The genetic analysis revealed a new missense mutation, an A to G transition at nucleotide position 1026 in exon 6, leading to the substitution of glycine for glutamic acid at amino acid position 371(E371G). This mutation was not detected in 50 Japanese controls using denaturing high-performance liquid chromatography.
Kawai
Masanobu
M
Department of Developmental Medicine, Pediatrics, D-5 Osaka University Graduate School of Medicine, 2-2 Yamadaoka Suita, Osaka, Japan.
Sakai
Norio
N
Miyake
Susumu
S
Tsukamoto
Hiroko
H
Akagi
Motohiro
M
Inui
Koji
K
Mushiake
Sotaro
S
Taniike
Masako
M
Ozono
Keiichi
K
D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation
D005904:Glial Fibrillary Acidic Protein; D018698:Glutamic Acid; D005998:Glycine