Table 1

Hypomethylated regions shared between TND-HIL and BWS-HIL patients

				BWS			TND
Candidate	Chr	Gene name	CpG island	Probe region*	No. probes†	Lowest p value‡	Probe region*	No. probes†	Lowest p value‡
Novel candidate DMRs	1	LOC728448/PPIEL	No	40 024 971–40 025 411	3	1.47E−18	40 024 971–40 025 232	2	3.09E−22
	4	JAKMIP1	Yes	6 107 021–6 107 339	4	2.48E−16	6 107 021–6 107 339	4	5.83E−36
	7	SVOPL	Yes	138 348 774–138 349 443	3	6.30E−41	138 348 774–138 349 443	3	7.21E−20
	9	FANCC	Yes	98 075 481–98 075 492	2	8.29E−58	98 075 481–98 075 492	2	7.28E−55
	17	GLP2R	No	9 729 250–9 729 424	3	3.33E−16	9 729 250–9 729 422	4	1.81E−23
	21	WRB	Yes	40 757 691–40 758 208	2	2.51E−20	40 757 691–40 758 208	4	6.71E−29
	8	LOC728024/ERLIN2	No	37 605 517–37 605 783	4	3.87E−40	37 605 359–37 605 978	6	2.69E−42
	18	LOC100130522/PARD6G-AS1	Yes	77 905 355–77 905 947	3	1.01E−19	77 905 298–77 905 947	9	4.38E−71
	22	NHP2L1	Yes	42 078 217–42 078 723	6	4.08E−15	42 078 217–42 078 723	6	4.25E−54
Imprinted—not associated with ID	1	DIRAS343	Yes	68 512 539–68 517 273	21	6.69E−31	68 512 539–68 517 273	20	5.45E−64
	6	FAM50B20 44	Yes	3 849 235–3 849 818	17	1.70E−18	3 849 272–3 849 818	17	1.64E−39
	15	IGF1R45	No	99 408 636–99 409 506	5	2.23E−15	99 408 636–99 409 957	6	1.04E−36
	19	ZNF33146 47	Yes	54 040 774–54 058 085	11	1.39E−40	54 040 813–54 058 085	10	9.13E−53
	20	L3MBTL48	Yes	42 142 417–42 143 502	13	1.32E−17	42 142 417–42 143 489	18	7.60E−25
Imprinted—associated with ID	6	PLAGL1	Yes	144 328 421–144 329 909	14	1.06E−55	144 328 482–144 329 909	15	1.22E−129
	7	MEST	Yes	130 130 187–130 133 110	42	6.12E−42	130 130 383–130 133 110	42	1.73E−45
	11	KCNQ1	Yes	2 715 837–2 722 258	26	1.14E−73	2 720 463–2 722 119	9	4.86E−13

Datasets from five patients with BWS-HIL and five with TND-HIL were compared with datasets from 245 and 211 batch-matched normal controls, respectively. Probes with M-values between −1 and +1 in controls and relative hypomethylation in patients with a p value of <1.33E−7 were identified. This subset was further filtered by minimal criteria for a hypomethylated locus, that is, ≥2 hypomethylated probes spaced by <2000 nucleotides. Candidate regions that meet these criteria in both BWS-HIL and TND-HIL are listed in this table.
*Genome position of most proximal and distal probe fulfilling hypomethylation criteria.
†Number of probes within the locus fulfilling hypomethylation criteria.
‡Minimum p value among probes fulfilling hypomethylation criteria.
BWS, Beckwith–Wiedemann syndrome; DMR, differentially methylated region; HIL, hypomethylation of imprinted loci; ID, imprinting disorder; TND, transient neonatal diabetes.