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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
  1. 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