Her genomic DNA was extracted from the peripheral leucocytes when an informed consent was obtained from the patient and her husband. A heterogeneous missense mutation was detected in exon 8 (c.1246C > T) of the GFAP gene, causing a change of arginine to tryptophan at amino acid position 416 (p.R416W). Her daughter’s genomic DNA showed the same heterozygous mutation but without any neurological symptoms [Fig. 5]. Upon clinical, family history, MRI finding and gene analysis, she was confirmed as adult AxD.
Fig. 5 The chromatograms of sequencing results. a The patient. b The daughter. c The control. In the area of the GFAP gene exon 8, there is a heterogeneous missense mutation point: c.1246C > T (cytosine > thymine, Aarrowhead), leading to amino acid change in p.R416W (arginine > tryptophan)