Demographics, clinical and genetic information for the patients with late-onset GM2G
| Patient No./Age (y)/Sex | Disease Onset (Y) | Ambulation Index | Molecular Defect* |
|---|---|---|---|
| 1/20/M | 12 | 0 | Exon 7, exon 11 |
| 2/32/M | 15 | 2 | Exon 7, R504C |
| 3/28/M | 13 | 3 | Exon 7, exon 13 |
| 4/52/M | 12 | 9 | Exon 7, intron 12 |
| 5/29/F | 17 | 4 | Exon 7, exon 11 |
| 6/54/M | 36 | 4 | Exon 7, exon 11 |
| 7/31/F | 12 | 2 | Exon 7, exon 11 |
| 8/50/F | 12 | 9 | Exon 7, exon 11 |
| 9/58/M | 17 | 7 | Exon 7, exon 11 |
* Mutations: The exon 7 mutation involves a G to A transition at position 269 (G269S), which represents the most common disease allele associated with late-onset GM2G. The exon 11 mutation (TATC1278) represents a frameshift mutation resulting from a 4-base insertion; this allele is the most frequent gene defect found either in homozygosity or heterozygosity among patients with the classic infantile form of Tay-Sachs disease.