Table 2 GLA gene variants identified and subject clinical characteristics

From: Low frequency of Fabry disease in patients with common heart disease

Alpha-galactosidase A activity

Urine Gb 3

Mutation

Gender

Age at consent

Ethnicity

Arrhythmia

CAD

MI

Valve

ICM

HCM

CHF

CVA

CKD/ESRD

Hypothyroid

DM

COPD

HTN

HLP

Septal hypertrophy

LVH

4.03

564

5′UTR-10C>T, IVS1-518T>C, IVS2-77delC, IVS2+990C>A, IVS4-16A>G, IVS6-22C>T,

M

82

W

X

X

X

         

X

X

  

6.97

805

IVS1-1238G>A, IVS4-16A>G

M

63

W

X

X

X

   

X

   

X

 

X

X

  

3.55

2208/ 4

5′UTR-30G>A

M

56

W

 

X

X

        

X

X

X

  

7.48

1261

5′UTR-10C>T, IVS1-518T>C, IVS2-77delC, IVS2+990C>A, IVS4-16A>G, IVS6-22C>T

M

57

W

 

X

X

          

X

  

6.86

289

IVS2+590T>C

M

59

W

X

               

5.96

274

IVS1-1238G>A

M

62

W

X

X

X

 

X

       

X

X

  

3.34

119

Asp83Asn/c.247G>A, Gat/Aat

F

71

W

X

  

X

X

    

X

   

X

  

10.02

96/ 23

Asp313Tyr/c.937G>T, Gat/Tat (het)

F

49

W

 

X

        

X

 

X

X

  

3.34

368/ 192

IVS0-12G>A IVS4+68A>G IVS6-22C>T (hemi)

M

59

W

 

X

X

 

X

  

X

X

 

X

 

X

X

  

3.47

83

Arg118Cys/c.352C>T, Cgc/Tgc

F

35

W

X

               

8.44

67

Asp313Tyr/c.937G>T, Gat/Tat (het)

F

71

W

X

     

X

  

X

X

 

X

   

2.39

449/ 146

IVS0-10C>T, IVS2-81—77delCAGCC, IVS4-16A>G, IVS6-22C>T (het)

F

60

B

 

X

X

  

X

X

X

X

X

  

X

X

  

3.27

216

IVS0-10C>T, IVS2-81—77delCAGCC, IVS4-16A>G, IVS6-22C>T (hemi)

M

58

H

 

X

 

X

        

X

   

4.1

70/ 41

Asp313Tyr/c.937G>T, Gat/Tat

F

72

W

   

X

        

X

 

X

 

2.98

95

Arg118Cys/c.352C>T, Cgc/Tgc

M

69

W

X

X

X

X

  

X

     

X

X

  

5.94

NA

Asp313Tyr/c.937G>T, Gat/Tat

F

82

W

X

  

X

    

X

X

  

X

X

 

X

3.46

29

Asp313Tyr/c.937G>T, Gat/Tat

F

61

W

 

X

          

X

X

  

7.93

13

Asp313Tyr/c.937G>T, Gat/Tat

F

63

W

 

X

 

X

            

2.15

19

Asp313Tyr/c.937G>T.Gat/Tat

F

52

W

X

X

 

X

   

X

 

X

  

X

  

X

  1. B, black; CAD, coronary artery disease; CHF, congestive heart failure; CKD/ESRD, chronic kidney disease/end-stage renal disease; COPD, chronic obstructive pulmonary disease; CVA, cerebrovascular accident; DM, diabetes mellitus; F, female; H, Hispanic; HCM, hypertrophic cardiomyopathy; HLP, hyperlipidemia; HTN, arterial hypertension; ICM, insertable cardiac monitor; LVH, left ventricular hypertrophy; M, male; MI, myocardial infarction; Valve, valvular disease; W, white.
  2. Urine Gb3: 200 ng/ml 99th percentile. α-galactosidase A activity: normal >2 μmol/l/hr.
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