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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

From: Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

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

  1. aslightly below the normal range