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Table 3 NBGS-positive samples for LSDs

From: Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

No

Disease

Gene

Genotype

Location

Sex

ACMG variant classification

Enzyme activity (μmol/L/h)

Status

Current age

1

Fabry disease

GLA

c.640-801G > A/-

IVS4/-

Male

P

1.91

Presymptomatic LSD

2Y5M

2

  

c.640-801G > A/-

IVS4/-

Male

P

1.34

Presymptomatic LSD

2Y5M

3

  

c.640-801G > A/-

IVS4/-

Male

P

1.41

Presymptomatic LSD

2Y8M

4

  

c.1067G > A/-

EX7E/-

Male

LP

1.57

Presymptomatic LSD

2Y5M

5

  

c.1067G > A/-

EX7E/-

Male

LP

1.03

Presymptomatic LSD

2Y3M

6

  

c.911G > C/-

EX6/-

Male

LP

4.76

Follow-up

2Y2M

7

  

c.911G > C/-

EX6/-

Male

LP

4.27

Follow-up

2Y1M

8

  

c.640-801G > A/-

IVS4/-

Female

P

3.38

Follow-up

2Y5M

9

  

c.640-801G > A/-

IVS4/-

Female

P

4.32

Follow-up

1Y10M

10

  

c.640-801G > A/-

IVS4/-

Female

P

8.62

Follow-up

1Y5M

11

  

c.640-801G > A/-

IVS4/-

Female

P

3.43

Follow-up

1Y4M

12

  

c.911G > C/-

EX6/-

Female

LP

9.75

Follow-up

2Y5M

13

  

c.911G > C/-

EX6/-

Female

LP

8.58

Follow-up

1Y6M

14

  

c.1072_1074delGAG/-

EX7E/-

Female

LP

4.41

Follow-up

2Y4M

15

  

c.593 T > C/-

EX4/-

Female

VUS

2.62

Follow-up

1Y11M

16

Krabbe

GALC

c.1901 T > C/ c.1912G > A

EX16/EX17E

Male

LP/LP

0.74

Presymptomatic LSD

2Y3M

17

  

c.1901 T > C/ c.2041G > A

EX16/EX17E

Male

LP/LP

0.21

Presymptomatic LSD

1Y10M

18

  

c.1901 T > C/ c.1901 T > C

EX16/ EX16

Male

LP/LP

0.29

Presymptomatic LSD

1Y9M

19

  

c.1901 T > C/ c.1901 T > C

EX16/ EX16

Male

LP/LP

0.34

Presymptomatic LSD

1Y4M

20

  

c.1901 T > C/ c.1901 T > C

EX16/ EX16

Female

LP/LP

0.17

Presymptomatic LSD

2Y

21

  

c.1901 T > C/ c.1901 T > C

EX16/ EX16

Female

LP/LP

0.24

Presymptomatic LSD

1Y6M

22

  

c.1901 T > C/ c.1901 T > C

EX16/ EX16

Female

LP/LP

0.31

Presymptomatic LSD

1Y2M

23

  

c.1901 T > C/ c.1901 T > C

EX16/ EX16

Female

LP/LP

0.95

Presymptomatic LSD

1Y1M

24

GSD II

GAA

[c.2237G > A, c.503G > A]/-

EX16, EX2/-

Male

P/LP

3.51

Excluded

2Y1M

25

  

[c.2132_2133delinsGG, c.1669A > T]/-

EX11/EX20E

Male

LP/P

3.80

Excluded

1Y11M

26

  

c.1634C > T/ c.2815_2816delGT

EX15, EX12/-

Male

LP/LP

0.63

Presymptomatic LSD

1Y9M

27

  

[c.2132_2133delinsGG, c.1669A > T]/-

EX15, EX12/-

Female

LP/LP

0.36

Excluded*

1Y9M

28

NPD-A/B

SMPD1

c.995C > G/ c.995C > G

EX2/EX2

Female

LP/LP

0.26

Presymptomatic LSD

2Y

29

NPD-C

NPC1

[c.1351G > A, c.3734_3735delCT]/-

EX9/EX24

Female

LP/LP

14.74

Excluded

1Y8M

30

MPS II

IDS

c.817C > T/-

EX6/-

Male

LP/-

-

Follow-up

1Y4M

  1. -, no relevant data available. P pathogenic, LP likely pathogenic. The normal enzyme activity ranges are as follows: for Fabry disease, 3.65–16.60 µM/h; for Krabbe disease, 0.74–4.83 µM/h; for GSD II, 1.45–15.76 µM/h; and for NPD, 0.99–6.45 µM/h. Follow-up indicates long-term monitoring. Excluded refers to individuals with cis-variant arrangement and normal enzyme activity, excluding presymptomatic LSD. Excluded* refers to individuals with a cis-variant arrangement but abnormal enzyme activity, and a recall and recheck of the enzyme activity revealed normal levels (in this case, 1.62 µM/h)
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Genome Medicine

ISSN: 1756-994X

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