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Table 2 Imprinting center region 1 (ICR1) methylation levels in patients with Silver-Russell syndrome (SRS) and controls

From: IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome

 

Blood

Buccal smears

Skin fibroblasts

SRS patients

 

Short sidea

Long side

Short side

Long side

S1

18b ± 2 (4)c

32 ± 4 (3)

33 ± 4 (4)

40 ± 2 (3)

48 ± 5 (3)

S2

25 ± 2 (3)

25 ± 1 (3)

25 ± 3 (3)

38 ± 1 (2)

30 ± 1 (2)

S3

36 ± 2 (3)

43 ± 1 (3)

46 ± 2 (3)

48 ± 5 (5)

58 ± 1 (2)

S4

21 ± 2 (4)

28 ± 1 (2)

35 ± 5 (2)

ndd

nd

S5

27 ± 3 (5)

34 ± 3 (2)

23 ± 1 (2)

36 ± 1 (2)

44 ± 1 (2)

Mean S1 to S5

25 ± 5e

32 ± 7

32 ± 9

41 ± 5

45 ± 12

32f ± 8

43g ±9

Controls

 

L

R

L

R

K1

52 ± 2 (2)

64 ± 0 (2)

69 ± 2 (2)

51 ± 2 (2)

nd

K2

53 ± 5 (2)

53 ± 3 (3)

55 ± 2 (4)

56 ± 3 (2)

57 ± 4 (2)

K3

64 ± 4 (3)

61 ± 5 (2)

60 ± 4 (2)

53 ± 1 (2)

52 ± 2 (2)

Mean K1 to K3

56 ± 5

60 ± 6

54 ± 3

  1. aFor location of short side see Table 1; bMS-MLPA determined methylation level in% (100% = fully methylated); cnumber of MS-MLPA determinations in brackets; dnd = not done; eP (S1 to S5: K1 to K3)blood = 0.00077; fP (S1 to S5: K1 to K3)buccal smears = 0.0000024; gP (S1 to S5: K1 to K3)skin fibroblasts = 0.022. L, left side; R, right side.