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Table 2 Distribution of mutations or predictable pathogenic variants in each subject

From: Current status of newborn screening for Pompe disease in Japan

Variant No Nucleotide change Amino acid change Subject ID
25 34 39 89 99 66 111 122 137 112 132 119 45 118 141 105 42 72 76 100 28 13 128 69 135 29 31 60 74 125 126 146 144 83 33 51 3 17 64 129
2 c.317G > A p.R106H                                
4 c.439G > A p.G147S                                         
5 c.503G > C p.R168P                                         
6 c.538_542delCACTT p.H180Hfs*7                                         
7 c.546G > T p.T182 =                                       
8 c.546 + 5G > T                                         
14 c.547-27A > G                                         
21 c.752C > T p.S251L                                         
22 c.761C > T p.S254L                                         
23 c.796C > T p.P266S                                         
28 c.1082 C > A p.P361Q                                         
29 c.1124 G > A p.R375H                                         
31 c.1170delC p.N390Kfs*2                                         
32 c.1190C > T p.P397L                                         
35 c.1244C > T p.T415M                                         
36 c.1309C > T p.R437C                                         
37 c.1316 T > A p.M439K                                   
43 c.1494G > A p.W498*                                         
46 c.1562A > T p.E521V                                         
50 c.1669A > T p.I557F                                         
51 c.1726G > A† p.G576S
52 c.1798C > T p.R600C                                         
53 c.1857C > G p.S619R                                         
55 c.1935C > A p.D645E                                         
56 c.2003A > G p.Y668C                                         
58 c.2055C > G p.Y685*                                         
59 c.2065G > A† p.E689K
62 c.2173C > T p.R725W                                         
64 c.2238G > C p.W746C                                         
71 c.2560C > T p.R854*                                         
72 c.2647-7G > A                                     
  GAA activity (pmol/h/disk) DBS 1.8  < 1.0 1.7  < 1.0 2.9  < 1.0 2.5 1.3 2.0  < 1.0 3.2  < 1.0 1.7  < 1.0 2.9  < 1.0  < 1.0  < 1.0 1.8 3.6 1.3  < 1.0 2.6  < 1.0 1.4  < 1.0 1.7 1.3  < 1.0 3.9‡ 2.4 2.2 3.1 1.3  < 1.0  < 1.0 1.1 1.7 1.3 3.1
  fibroblast 5.4 18.7 6.1 ND ND 4.9 ND ND ND ND ND ND 8.8 ND ND ND 4.2 7.8 ND 2.9 9.6 23.4 ND 4.4 ND 12.6 8.3 7.7 8.7 ND ND ND ND 4.7 6.5 6 5.3 27 ND ND
  Diagnosis Carrier or potential carrier (DBS GAA range: < 1.0–3.6)
Variant No Nucleotide change Amino acid change Subject ID
5 12 23 24 26 40 56 58 59 63 71 73 79 88 96 101 109 113 124 134 139 142 143 106 8 93 87 84 127 131 133 130 140
2 c.317G > A p.R106H                                  
4 c.439G > A p.G147S                                  
5 c.503G > C p.R168P                                  
6 c.538_542delCACTT p.H180Hfs*7                                 
7 c.546G > T p.T182 =                                   
8 c.546 + 5G > T                                  
14 c.547-27A > G                                 
21 c.752C > T p.S251L      
22 c.761C > T p.S254L                                  
23 c.796C > T p.P266S                                  
28 c.1082 C > A p.P361Q                                  
29 c.1124 G > A p.R375H                                  
31 c.1170delC p.N390Kfs*2                                  
32 c.1190C > T p.P397L                                  
35 c.1244C > T p.T415M                                  
36 c.1309C > T p.R437C                                  
37 c.1316 T > A p.M439K                                  
43 c.1494G > A p.W498*                                  
46 c.1562A > T p.E521V                                  
50 c.1669A > T p.I557F                                  
51 c.1726G > A† p.G576S      
52 c.1798C > T p.R600C                                 
53 c.1857C > G p.S619R                                  
55 c.1935C > A p.D645E                                  
56 c.2003A > G p.Y668C                                  
58 c.2055C > G p.Y685*                                  
59 c.2065G > A† p.E689K      
62 c.2173C > T p.R725W                                  
64 c.2238G > C p.W746C                                  
71 c.2560C > T p.R854*                                  
72 c.2647-7G > A                                  
  GAA activity (pmol/h/disk) DBS  < 1.0 1.1  < 1.0  < 1.0 2.1 1.3  < 1.0  < 1.0  < 1.0 1.3  < 1.0  < 1.0 1.3  < 1.0  < 1.0  < 1.0  < 1.0  < 1.0  < 1.0 2.5 2.1 2.0 1.7  < 1.0 2.0  < 1.0  < 1.0  < 1.0  < 1.0 3.2  < 1.0 1.9 1.0
  Fibroblast 10 ND ND ND 35.1 3.7 3 8.1 7.8 ND ND 7.6 ND 9.6 ND ND ND ND ND ND ND ND ND 14.5 38 ND 5.4 3.0 0.9 ND ND ND ND
  Diagnosis Carrier or potential carrier (DBS GAA range: < 1.0–3.6) Potential LOPD (DBS GAA range: < 1.0–3.2) IOPD
  1. DBS GAA control range: 6.6– > 205
  2. ND, not done; †, pseudodegiciency alleles; ‡, assayed by the Ba/Zn method
  3. , Homozygote; , Heterozygote; LOPD, late-onset Pompe disease; IOPD, infantile-onset Pompe disease