Table 1.
Differentially methylated regions identified in two affected MZD twins belonging to two unrelated families
| Transcript | Chr | Region start | Region end | Distance to TSS | Methylation status | MAT score Family 1 | MAT score Family 2 | Found in Family 1 parental | Found in Family 2 parental |
|---|---|---|---|---|---|---|---|---|---|
| HIST2H2AA3 | 1 | 148085850 | 148085870 | −3382 | Increase | 8.45215 | 12.7557 | YES (Both) | YES (Mom) |
| HIST2H2AA4 | 1 | 148085850 | 148085870 | −3382 | Increase | 8.45215 | 12.7557 | YES (Both) | YES (Mom) |
| HIST2H3A | 1 | 148085850 | 148085870 | −4935 | Increase | 8.45215 | 12.7557 | YES (Both) | YES (Mom) |
| HIST2H3C | 1 | 148085850 | 148085870 | −4935 | Increase | 8.45215 | 12.7557 | YES (Both) | YES (Mom) |
| HIST1H1C | 6 | 26164302 | 26164322 | 357 | Increase | 6.0215 | 7.54892 | NO | NO |
| PTPRN2 | 7 | F1:157141154 F2:157352628 | F1:157141174 F2:157352648 | F1:932070 F2:720596 | Increase | 2.41616 | 7.11519 | NO | NO |
| TTYH3 | 7 | F1:2653547 F2:2664585 | F1:2653567 F2:2664605 | F1:15418 F2:26456 | F1:Increase F2:Decrease | 2.47725 | −2.82779 | NO | NO |
| ZFP41 | 8 | F1:144403919 F2:144409425 | F1:144403939 F2:144409445 | F1:3446 F2: 8952 | Increase | 2.05379 | 15.1625 | NO | NO |
| SNORD115-10 | 15 | 22983806 | 22983826 | 30 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-11 | 15 | 22983806 | 22983826 | −1828 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-12 | 15 | 22983806 | 22983826 | 1935 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-29 | 15 | 22983806 | 22983826 | −1828 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-33 | 15 | 23030052 | 23030072 | 2974 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-34 | 15 | 23030052 | 23030072 | 1425 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-35 | 15 | 23030052 | 23030072 | −415 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-36 | 15 | 22983806 | 22983826 | −1828 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-37 | 15 | 23030052 | 23030072 | −4154 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-43 | 15 | 22983806 | 22983826 | −1828 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-5 | 15 | 22983806 | 22983826 | 1932 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD115-9 | 15 | 22983806 | 22983826 | 1935 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD116-10 | 15 | 22868070 | 22868090 | −2263 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD116-11 | 15 | 22868070 | 22868090 | −4078 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD116-3 | 15 | 22868070 | 22868090 | −1256 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD116-8 | 15 | 22868070 | 22868090 | 1399 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| SNORD116-9 | 15 | 22868070 | 22868090 | −1256 | Increase | 7.8983 | 7.49051 | YES (Both) | YES (Both) |
| GNAS | 20 | 56879799 | 56879819 | 18368 | F1:Decrease F2:Increase | −10.7502 | 17.2187 | YES (Both) | YES (Both) |
| XIST | X | 72974756 | 72974776 | 14538 | F1:Decrease F2:Increase | −7.36623 | 12.1903 | YES (Both) | NO |
Chr = Chromosome, Region Start and Region End = Beginning and end of region, TSS = Distance to Transcript Start Site; F1 = Family 1; F2 = Family 2.