Table 1 Review of molecularly proven cases of GM2 Gangliosidosis-AB variant
From: GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review
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 |