https://orcid.org/0000-0002-6063-377X
Figures & data
Table 1. Fluorescent-labeled primers used for GGGGCC repeats of the C9orf72 gene and the primer sequences used for the DNA analysis of SOD1, TARDBP, FUS, and UBQLN2 genes
Figure 1. (a) Pedigree of family I showing history of ALS for six cases. SOD1 and FUS genotype are shown corresponding symbols. The arrow denotes the proband of the family. The individuals' age of medical history taking is shown in the upper left corner. Pre-symptomatic individuals are shown with question mark. Square indicates male; circle female; slash deceased; double line consanguineous marriage. Black symbols indicate patients affected with ALS; white unaffected individuals.
Table 2. The genomic alterations observed in fALS and sALS cases
Figure 2. (a) DNA sequencing analysis revealed the C to T transition in the heterozygote form on position 133 of intron 1 of the SOD1 gene (c.72+133C>T). (b) DNA sequencing analysis revealed the c.291C>T genomic alteration (predicting p.Y97Y) in the heterozygote form in the exon 4 of FUS gene. (c) DNA sequencing analysis revealed the c.291C>T genomic alteration (predicting p.Y97Y) in the homozygote form in the exon 4 of FUS gene.
Figure 3. (a) Fragman analysis result showing expanded repeat numbers c.-45+162_-45+163insGGGGCC, (b) Fragman analysis result showing normal repeat numbers in intron 1 of C9orf72 gene.
