Infantile Alexander Disease in Iran: a Novel GFAP Mutation

Infantile Alexander disease (IAD) is the most severe and common form of disease and usually result in death. Dominant mutations in the GFAP gene (Glial fibrillary acidic protein) have been reported to cause IAD. All coding regions of GFAP gene were amplified by PCR and sequenced using BigDye protocol. In silico analyses were also done for the variants. In this study we described a girl with infantile Alexander disease due to a de novo mutation, c.715C˃T. We investigated the effect of this variant on the protein structure and pathogenicity of Alexander disease. IAD may be a common disease and GFAP should be sequenced at first step

کلیدواژه ها:

Infantile Alexander Disease ، GFAP ، dominant mutation