Table 2.
Methylation and sequencing analysis of 11p15.5 locus. Methylation percentage at the two 11p15.5 Differentially Methylated Regions, CDKN1C variants and their allelic status are reported. As already mentioned in Material and Method section, the methylation value represents the mean of the methylation percentage at each of the four analyzed CpG sites. In addition, reported methylation levels are the mean of at least two independent experiments
| Case Nr | Methylation analysis | CDKN1C sequencing | ||
|---|---|---|---|---|
| H19/IGF2: IG-DMR (%) | KCNQ1OT1: TSS-DMR (%) | Genomic Variants | Alleles | |
| 1 | 49.3 | 48.0 | c.555 T>C (p.A185A) | heterozygous |
| 2 | 48.5 | 38.6 a | c.555 T>C (p.A185A); c.600 A > G (p.P200P) | heterozygous |
| 3 | 51.0 | 47.0 | c.511_522delGCTCCGGTCGC (p.A171_A174del) | homozygous |
| 4 | 48.1 | 46.3 | wildtype | |
| 5 | 42.0 | 47.0 | c.555 T>C (p.A185A) | heterozygous |
| 6 | 47.5 | 47.0 | c.511_522delGCTCCGGTCGC (p.A171_A174del) | heterozygous |
| 7 | 47.0 | 49.4 | wildtype | |
| 8 | 47.0 | 45.3 | wildtype | |
| 9 | 49.6 | 48.0 | wildtype | |
| 10 | 49.3 | 47.1 | wildtype | |
| 11 | 49.1 | 47.9 | c.511_522delGCTCCGGTCGC (p.A171_A174del) | heterozygous |
| 12 | 44.3 | 45.3 | wildtype | |
| 13 | 50.0 | 50.0 | wildtype | |
| 14 | 44.0 | 45.0 | c.511_522delGCTCCGGTCGC (p.A171_A174del) | homozygous |
| 15 | 50.0 | 50.0 | c.-85 G>A, c.a5 + 24_a5 + 25insG | heterozygous |
| 16 | 48.0 | 48.0 | c.555 T>C (p.A185A); c.624_629delGGCCCC (p.A209_P210del) | homozygous |
| 17 | 49.0 | 47.0 | c.555 T>C (p.A185A) | homozygous |
| 18 | 45.0 | 49.0 | c.511_522delGCTCCGGTCGC (p.A171_A174del) | heterozygous |
| 19 | 41.0 | dysomogeneous pattern | c.a5 + 24_a5 + 25insG | heterozygous |
| 20 | 47.0 | 47.0 | c.555 T>C (p.A185A), c.624_629delGGCCCC (p.A209_P210del) | heterozygous |
| 21 | 48.0 | 49.0 | c.511_522delGCTCCGGTCGC (p.A171_A174del) | heterozygous |
aslightly below the normal range