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Table 4 Pathogenic mutations and their descriptions of 18 type 1 diabetes with G6PD deficiency patients

From: Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China

Patient

Age at onset

Gender

G6PD gene

G6PD/6PGD

Mutation name

Exon

Nucleotide change

Amino acid change

Genotype

1

9y

F

Kaiping

12

c.1388G > A

p.Arg493His

Homo

0.12

2

2y8m

M

Canton

11

c.1376G > T

p.Arg459Leu

Hemi

0.10

3

3y

M

Gaohe

2

c.95A > G

p.His32Arg

Hemi

0.12

5

1y8m

M

Kaiping

12

c.1388G > A

p.Arg493His

Hemi

0.06

6

12y

M

Canton

11

c.1376G > T

p.Arg459Leu

Hemi

0.09

7

11y

M

Kaiping

12

c.1388G > A

p.Arg493His

Hemi

0.12

8

16y

M

Gaohe

2

c.95A > G

p.His32Arg

Hemi

0.12

9

10 m

M

Gaohe

2

c.95A > G

p.His32Arg

Hemi

0.88

10

2y3m

M

Gaohe

2

c.95A > G

p.His32Arg

Hemi

0.06

11

3y

F

Kaiping

12

c.1388G > A

p.Arg493His

Homo

0.26

12

13y10m

F

Kaiping

12

c.1388G > A

p.Arg493His

Homo

0.34

13

7y

F

Canton

11

c.1376G > T

p.Arg459Leu

Hetero

0.94

14

1y2m

M

Kaiping

12

c.1388G > A

p.Arg493His

Hemi

0.09

15

7y

M

Canton

11

c.1376G > T

p.Arg459Leu

Hemi

0.39

16

7y

M

Canton

11

c.1376G > T

p.Arg459Leu

Hemi

0.09

17

5y

M

Viangchan

9

c.871G > A

p.Val291Met

Hemi

0.77

18

9y

F

Canton

11

c.1376G > T

p.Arg459Leu

Homo

0.28

19

11 m

M

Canton

11

c.1376G > T

p.Arg459Leu

Hemi

0.16

  1. Hemi hemizyotes, Homo homozygous, Hetero heterozygous