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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