Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

Table 2 Regions differentially methylated in Claes-Jensen syndrome

Chromosome	Start	End	Width (bps)	Methylation difference	Probe count	FWER	Overlapping gene	Distance to CpG island
chr15	89,919,993	89,921,182	1190	+ 0.28	8	0.001	MIR9-3HG	0
chr17	7,486,551	7,486,874	324	− 0.29	7	0.001	MPDU1 (1121)^a	0
chr6	164,092,410	164,093,099	690	− 0.32	6	0.001		0
chr13	113,242,878	113,243,141	264	− 0.33	3	0.004	TUBGCP3 (396) ^a	221
chr2	25,383,404	25,384,809	1406	− 0.26	7	0.005	POMC	0
chr5	176,559,334	176,559,563	230	− 0.33	3	0.005	NSD1 (1270) ^a	0
chr2	232,348,334	232,348,794	461	− 0.28	4	0.008		0
chr1	7,887,199	7,887,560	362	− 0.24	5	0.009	PER3	0
chr16	2,801,793	2,801,952	160	− 0.31	3	0.01	SRRM2-AS1	0

Methylation difference is calculated by subtracting average regional methylation levels in controls from the patients (patients − controls)
FWER family-wise error rate, bps base pairs
^aDistance in base pair from the transcription start site

ISSN: 1868-7083