Table 1.
Review of molecularly proven cases of GM2 Gangliosidosis-AB variant
| Case | Mutation | Exon | Predicted protien change | Author | Ethnicity | Year |
|---|---|---|---|---|---|---|
| 1 | c.412T>C (p.C107R)a
(Homozygous) |
3 | Reduced interaction with Hex A | Schroder et al. [15] | US Black | 1991 |
| 2 | c.412T>C (p.C138R)a
(Homozygous) |
3 | Reduced interaction with Hex A | Xie et al. [16] | US Black | 1992 |
| 3 | c.506G>C (p.R169P) (Homozygous) |
4 | Pre-matured protein degradation | Schroder et al. [17] | Indian | 1993 |
| 4 | c.262_264delAAG(p.88Kdel) (Homozygous) |
3 | Absence of mature CRM | Schepers et al. [14] | Saudi Arabia | 1996 |
| 5 | c.410delA (p.H137PfsX34) (Homozygous) |
3 | Absence of mature CRM | Schepers et al. [14] | Spanish | 1996 |
| 6 | c.160G>T (p.E54X) (Homozygous) |
2 | Absence of mRNA or CRM | Chen et al. [9] | Laotian, Hmong |
1999 |
| 7 | c.522T>G (p.L174R) (Homozygous) |
4 | Pre-matured protein degradation | Kolodny et al. [18] | Indian | 2008 |
| 8 | c. 160G>T (p.E54X) (Homozygous) |
2 | Absence of mRNA or CRM | Renaud et al. [19] | Hmong | 2015 |
| 9 | c.164C>T (p.P55L) (Homozygous) |
2 | Reduced interaction with Hex A | Salih et al. [6] | Saudi Arabia | 2015 |
| 10 | c.472G>T (p.E158X) (Homozygous) |
4 | Absence of mRNA or CRM | Present case | Indian | 2015 |
a The mutations identified by Schroder et al. (1991) (CYS107ARG) and Xie et al. (1992) (CYS138ARG) are the same but derived from different amino acid numbering systems