Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease

Masanobu Kawai; Norio Sakai; Susumu Miyake; Hiroko Tsukamoto; Motohiro Akagi; Koji Inui; Sotaro Mushiake; Masako Taniike; Keiichi Ozono

doi:10.1016/j.braindev.2005.03.011

Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease

Brain Dev. 2006 Jan;28(1):60-2. doi: 10.1016/j.braindev.2005.03.011. Epub 2005 Sep 15.

Authors

Masanobu Kawai¹, Norio Sakai, Susumu Miyake, Hiroko Tsukamoto, Motohiro Akagi, Koji Inui, Sotaro Mushiake, Masako Taniike, Keiichi Ozono

Affiliation

¹ Department of Developmental Medicine, Pediatrics, D-5 Osaka University Graduate School of Medicine, 2-2 Yamadaoka Suita, Osaka, Japan.

PMID: 16168595
DOI: 10.1016/j.braindev.2005.03.011

Abstract

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.

Publication types

Case Reports
Comparative Study

MeSH terms

Alexander Disease / genetics*
Alexander Disease / pathology
Brain / pathology
Child
Chromatography, High Pressure Liquid / methods
DNA Mutational Analysis / methods
Female
Glial Fibrillary Acidic Protein / genetics*
Glutamic Acid / genetics
Glycine / genetics
Humans
Japan
Magnetic Resonance Imaging / methods
Mutation*

Substances

Glial Fibrillary Acidic Protein
Glutamic Acid
Glycine