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Table 2 Spectrum of AGL-variants and clinical features in patients with milder phenotype of GSD III

From: The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

Reference Age/sex Ethnicity
or origin
of study
Hepatomegaly Liver biopsy Cardio
myopathy
Myopathy CK Hypertriglyceridemia AST,
ALT
Hypoglycemia Sub
type
AGL mutation
Crushell et al. 2010 [24] 18Y Irish + N/A - - - N/A + + IIIb c.[1879G>T]+[4197delA]
exon 15/exon 32
  18Y   + N/A - - - N/A + + IIIb c.[18_19delGA]+[3682C>T]
exon 3/exon 28
  20Y   + N/A - - - N/A + + IIIb c.[18_19delGA]+[3980G>A]
exon 3/exon 31
  17Y   + N/A - - - N/A + + IIIb c.[18_19delGA]+[3980G>A]
exon 3/exon 31
Lee et al. 2011 [25] 16Y/F Nicaraguan + + - - - N/A + + IIIb 17delAG/ Hom
Mili et al. 2012 [28] 2Y/M Tunisian + N/A N/A - - N/A + + IIIb IVS32–12A>G/ Hom
Intron 32
Minen et al. 2012 [31] 3Y/M Italian + + - - - + + + N/A c.664+3A>G/ Hom
Intron 6
Ben et al. 2013 [32] 11M/M/ Con Tunisian + + + - - + + + N/A c.2682-8A>G/ Hom
Intron 21
14D/F/ Con   + + - - - + + + N/A
Sentner et al. 2013 [26] 3Y/M Caucasian + + - - - + + + N/A c.[655A>G]+ [4529dupA]
exon 6/exon 35
  30Y/M   + + - - - + + + IIIb c.16C>T/ Hom
exon 3
  41Y/F   + + - - - + + + IIIb c.1027C>T+ IVS32–12A>G
exon 9/Intron32
  3Y/M/ Con   + + - - - + + + N/A c.3911delA/ Hom
exon 30
  1Y/M/ Con   + + - - + + + + N/A
Ko et al. 2014 [30] 5Y/F Korean + + - - - - + N/A N/A p.[R285X]+[R675W]
12Y/M   + + - - - - + N/A N/A c.[1735+1G>T]+ [2591G>C]
Basit et al. 2014 [29] Con A
5Y/M
9Y/F
11Y/ F
Saudi + N/A - - + N/A + + IIIb VS32-12A>G/ Hom
Intron 32
   + N/A - - + - + + IIIb
   + N/A - - N/A N/A + + IIIb
  Con B
12Y/M
8Y/M
Saudi + N/A - - N/A N/A + - IIIb No detect any pathogenic variant
   + N/A - - + N/A + - IIIb
  Con C
2Y/F
Saudi + N/A - - - N/A + - IIIb VS32-12A>G/ Hom
Intron 32
  Con D
36Y/ F
42Y/ F
44Y/M
44Y/ F
46Y/ F
50Y/M
11Y/ F
Saudi + N/A - - N/A N/A N/A + IIIb VS32-12A>G/ Hom
Intron 32
   + N/A - - + N/A + + IIIb
   + N/A - - N/A N/A N/A + IIIb
   + N/A - - N/A N/A N/A + IIIb
   + N/A - - N/A N/A N/A + IIIb
   + N/A - - + N/A + + IIIb
   + N/A - - + N/A + + IIIb
  Con E
4Y/ F
11Y /F
Saudi + N/A - - N/A N/A N/A + IIIb VS32-12A>G/ Hom
Intron 32
   + N/A - - + N/A + + IIIb
Oterdoom et al. 2015 [27] 63Y/M Dutch + + - - - - + - IIIb c.[16C>T]+[1013_1014dupAT]
Perveen et al. 2020 [5] 3Y/M Indian + N/A N/A N/A - - + - N/A c.1880A>G/ Hom
3Y/F   + + N/A N/A - + + - N/A
4Y/F   + N/A N/A N/A - - + + N/A c.4331A>G/ Het
3Y/M   + + N/A N/A - - + + N/A c.3069G>A/ COH
6Y/F   + + N/A N/A - - + - N/A c.4353G>T/ COH
2.5Y/F   + + N/A N/A - + + + N/A c.3083+1G>A/Het
3.5Y/M   + + N/A N/A - + + - N/A c.2362-2392dup31/ COH
4Y/M   + + N/A N/A - + + + N/A c.[4334A>G]+[3444C>G]
3Y/M   + + N/A N/A - + + - N/A c.[2362-2392dup31]+[4334A>G]
  1. Abbreviations: AGL amylo-1,6-glucosidase, D day, M month, Y year, /F female, /M male, CK creatine kinase, ALT alanine aminotransferase, AST aspartate aminotransferase; Hom homozygote, Het heterozygote, COH Compound heterozygote, Con consanguineous, N/A not available/assessed