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Determining Whether Sequence Differences In Gfa Gene Cause Alexander Disease, Lital Nehama Silverman Webster

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Alexander disease (AxD) is a fatal astrogliopathy usually caused by mutations in the GFA gene, which encodes glial fibrillary acidic protein (GFAP). In this document, two unusual sequence differences in GFA that are associated with AxD are characterized. The first difference is the only reported case of an AxD-causing mutation occurring in a non-coding region of GFA, c.(619-3C>G), resulting in the largest known in-frame deletion in GFAP due to abnormal splicing in a small fraction of the GFA transcripts. The second difference is the farthest reported C-terminal point mutation in GFAP, g.1277A-->T, which produces a Q426L coding change. …