Skip to main content

Table 1 Clinical features and results of molecular tests of patients (n = 30)

From: Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy

Patient No. Sex CA* (yr) BA* (yr) Predicted LLD† (mm) Standardized predicted LLD‡ (%) Epigenotype MS-MLPA for 11p15 Bisulfite pyrosequencing
DMR1§ (SD) DMR2§ (SD) Methylation difference
(SD)
Hemihyperplasia
1 F 10.8 11 25 1.8 N N − 0.72 (B) 0.74 (B) 0
2 F 11 11 33 2.2 N N 0.56 (F) 1.82 (F) 2.38
3 M 12.8 12.8 51 3.1 DMR1-GOM DMR1-GOM 2.63 (F) − 0.68 (F) 3.31
4 M 14.5 15 26 1.5 N N − 1.01 (F) 1.43 (F) 2.44
5 M 13 13.3 20 1.1 N N − 0.77 (B) − 1.67 (B) 0.02
6 M 6.9 6.1 112 8.7 pUPD 11p15 DMR1-GOM & DMR2-LOM 3.55 (F) − 6.72 (F) 10.27
7 M 14 14 20 1.2 DMR2-LOM DMR2-LOM 0.39 (B) − 5.59 (B) 3.1
8 M 8.4 8 43 3.2 N N 1.53 (S) − 1.52 (S) 0.71
9 M 14.4 14.2 40 2.5 N N 0.08 (F) − 1.51 (F) 1.59
10 M 11.2 12 30 2 N N − 0.33 (S) − 0.78 (S) 0.41
11 M 12.4 11.9 34 2.3 N N − 1.39 (S) − 0.04 (S) 1.33
12 M 10.8 10 40 2.8 N N 0.94 (S) − 0.81 (S) 0.86
13 M 11 10.9 22 1.5 N N 0.31 (M) − 0.74 (M) 0.36
14 M 14.4 15 24 1.3 DMR1-LOM DMR1-LOM − 2.12 (B) − 0.9 (B) 0.4
15 F 11.1 12 32 2.2 DMR1-LOM DMR1-LOM − 2.24 (F) 1.29 (F) 3.53
16 M 12.1 11.8 38 2.5 N N − 1.46 (F) 1.69 (F) 3.15
17 M 13.6 13.4 20 1.1 N N − 0.72 (B) 1.54 (B) 0.97
18 F 12 12 26 1.6 N N − 1.93 (B) 1.91 (B) 2.15
19 F 12.1 12 25 1.6 N N − 0.68 (B) 1.58 (B) 1.98
20 F 10.6 11.3 35 2.4 N N 1.32 (M) − 1.62 (M) 0.95
21 F 12 11 25 1.6 N N − 0.89 (B) 0.89 (B) 0.09
22 F 11.5 11 26 1.7 N N −1.12 (S) 1.17 (S) 0.59
23 F 7.9 7.9 61 4.8 DMR2-LOM DMR2-LOM − 1.65 (B) − 14.72 (B) 7.77
Hemihypoplasia
1 M 12 12 43 2.9 N N 0.97 (M) − 0.91 (M) 0.99
2 F 10.1 12.1 57 4.1 mUPD 11p15 N − 2.65 (S) 2.71 (S) 3.27
3 M 11.7 11.8 44 3 DMR2-LOM DMR2-LOM − 0.02 (B) − 3.25 (B) 3.08
4 M 12.2 12 26 1.7 N N 0.94 (M) − 1.47 (M) 0.67
5 F 11.4 12 54 3.5 DMR2-LOM DMR2-LOM 0.69 (F) − 2.51 (F) 3.2
6 F 11.2 11 20 1.4 DMR1-LOM DMR1-LOM − 3.96 (B) 0.18 (B) 2.31
7 M 12.3 12.3 37 2.5 N N − 1.65 (S) 1.6 (S) 3.08
  1. *Age at epiphysiodesis or tibial lengthening was presented
  2. †Leg length discrepancy at skeletal maturity was predicted using the multiplier method
  3. ‡Predicted leg length discrepancy was divided by the height at the time of epiphysiodesis or tibial lengthening
  4. §Among blood and tissue samples, results of the sample with the maximum methylation difference were described
  5. Methylation difference was calculated in fat samples as follows: altered DNA methylation level (SD) at DMR1 − DMR2
  6. CA , hronological age; BA, bone age; LLD, leg length discrepancy; MS-MLPA, methylation-specific multiplex-ligation-dependent probe amplification; DMR1, differentially methylated region 1; DMR2, differentially methylated region 2; SD, standard deviation; N, normal; GOM, gain of methylation; LOM, loss of methylation; pUPD, paternal uniparental disomy; mUPD, maternal uniparental disomy; B, blood; F, fat; S, skin; M, muscle