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Table 1 Subject characteristics of the KCNQ1 R670K carrier (KCNQ1) and KCNE1 G60D carrier (KCNE1) and their BMI, sex and age matched control participants. Subject characteristics and fasting baseline of glucose and hormone levels of the mutation carriers and their matched control participants (n = 6), and baseline of ECG (n = 4), mean ± SD

From: Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

 

KCNQ1

KCNE1

Control

Sex

Male

Male

Male

Age

48

49

48 ± 1

BMI (kg/m2)

28.0

20.7

24.7 ± 4.3

Fat percentage

25.6

14.2

21.8 ± 5.8

HbA1c (mmol/mol)

31.0

34.0

34.0 ± 3.6

Hgb (mmol/l)

9.0

9.1

8.9 ± 0.8

Cholesterol (mmol/l)

4.0

5.9

4.7 ± 0.7

Creatinine (μmol/l)

62

71

77 ± 7

ECG characteristics in fasting state

 QTcB (ms)

434.6

449.5

410.5 ± 26.8

 QTcF (ms)

427.8

458.8

417.9 ± 17.2

 Heart rate (beats/min.)

66.4

53.5

54.7 ± 10.7

Fasting glucose and hormone levels

 Serum C-peptide (pmol/l)

774

403

576 ± 301

 Serum Insulin (pmol/l)

88

21

42 ± 47

 Plasma total GIP (pmol/l)

15

7

9 ± 2

 Plasma total GLP-1 (pmol/l)

18

14

12 ± 2

 Plasma Glucagon (pmol/l)

7

3

7 ± 4

 Plasma Glucose (mmol/l)

5.6

5.2

5.1 ± 0.4