Table 2. Methylation sensitive MLPA.
| Probe | Normal range | I-1 | I-2 | 1-3 | II-1 | II-2 | II-3 | III-1 |
| Copy No probe | ||||||||
| H19 2219 | 0.87–1.09 | 0.98 | 0.98 | 0.90 | 0.86 | 0.96 | 0.99 | 0.91 |
| H19 10585 | 0.79–1.19 | 0.92 | 1.05 | 0.97 | 0.99 | 1.03 | 0.98 | 0.91 |
| H19 10586 | 0.87–1.09 | 0.92 | 0.86 | 1.01 | 0.83 | 0.87 | 0.96 | 0.98 |
| H19 6268 (exon 3) | 0.91–1.03 | 1.04 | 1.06 | 1.03 | 1.02 | 0.98 | 1.00 | 0.97 |
| H19 10588 | 0.77–1.23 | 0.86 | 0.94 | 0.91 | 0.90 | 1.01 | 0.86 | 0.842 |
| IGF2 6272 (exon 3) | 0.88–1.08 | 0.99 | 1.00 | 0.95 | 0.98 | 0.92 | 1.00 | 0.95 |
| KCNQ1 3537 (Alt exon 1) | 0.97–1.07 | 0.94 | 0.96 | 0.92 | 1.09 | 1.03 | 0.93 | 0.92 |
| KCNQ1 3539 (exon 3) | 0.85–1.10 | 0.99 | 0.51 | 1.01 | 0.54 | 0.56 | 0.99 | 0.53 |
| KCNQ1 3542 (exon 6) | 0.87–1.16 | 0.96 | 0.55 | 0.95 | 0.54 | 0.55 | 0.95 | 0.54 |
| KCNQ1 3543 (exon 7) | 0.83–1.25 | 1.05 | 0.50 | 1.00 | 0.54 | 0.54 | 1.00 | 0.54 |
| KCNQ1 3544 (exon 8) | 0.93–1.13 | 1.02 | 0.51 | 0.98 | 0.56 | 0.52 | 0.99 | 0.55 |
| KCNQ1 3550 (exon 12) | 0.90–1.04 | 0.99 | 0.49 | 1.00 | 0.53 | 0.52 | 1.01 | 0.53 |
| KCNQ1 3553 (exon 15) | 0.88–1.14 | 1.01 | 0.53 | 0.99 | 0.52 | 0.55 | 0.98 | 0.58 |
| KCNQ1 3555 (exon 16) | 0.90–1.04 | 0.99 | 0.90 | 0.97 | 0.97 | 0.98 | 0.94 | 0.98 |
| CDKN1C 6262 (exon 1) | 0.93–1.05 | 1.02 | 0.92 | 0.97 | 0.97 | 0.97 | 0.99 | 0.99 |
| CDKN1C 6263 (exon 1) | 0.96–1.18 | 0.98 | 0.94 | 1.03 | 0.91 | 0.92 | 0.98 | 0.96 |
| Methylation probe | ||||||||
| H19 DMR 8743 | 0.52–0.62 | 0.55 | 0.50 | 0.53 | 0.57 | 0.57 | 0.51 | 0.62 |
| H19 DMR 8744 | 0.53–0.63 | 0.61 | 0.56 | 0.60 | 0.57 | 0.58 | 0.61 | 0.52 |
| H19 DMR 11080 | 0.41–0.63 | 0.53 | 0.56 | 0.54 | 0.49 | 0.55 | 0.54 | 0.48 |
| H19 DMR 6266 | 0.40–0.54 | 0.49 | 0.51 | 0.50 | 0.52 | 0.50 | 0.50 | 0.51 |
| KvDMR 7173 | 0.53–0.63 | 0.57 | 1.01 | 0.60 | 0.00 | 0.00 | 0.62 | 0.00 |
| KvDMR 6267 | 0.48–0.57 | 0.52 | 0.88 | 0.60 | 0.00 | 0.00 | 0.55 | 0.00 |
| KvDMR 7171 | 0.51–0.67 | 0.61 | 0.94 | 0.57 | 0.00 | 0.00 | 0.54 | 0.00 |
| KvDMR 7172 | 0.48–0.61 | 0.53 | 0.96 | 0.54 | 0.00 | 0.00 | 0.53 | 0.00 |
MS-MLPA analysis of the pedigree showing deletion from exon 2 to exon 15 within KCNQ1 in I-2, II-1, II-2 and III-1 (bolded), and maintenance of normal copy number in the remaining unaffected individuals. Normal methylation was maintained at the H19DMR (IC1) in all individuals and KvDMR methylation is abnormal in I-2, II-1, II-2 and III-1 (bolded). In I-2 the KvDMR methylation values are indicative of retention of the methylated IC2 on the maternal KCNQ1 allele and loss of the paternal unmethylated IC2, and in II-1, II-2 and III-3 these values are consistent with loss of the methylated IC2 on maternal KCNQ1 and retention of the paternal unmethylated IC2.