A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

Table 3 Differential mRNA expression in whole blood from MR patients.

			Missense change		Truncating mutation
Symbol		Sequence ID	Ratio^a	Significance^b	Ratio^a	Significance^c
CETP^d	cholesteryl ester transfer protein, plasma	NM_000078.1		ND		ND
CD55^e	decay accelerating factor for complement	NM_000574.2	7.50	**	1.00	NS
CMKOR1^f	chemokine orphan receptor 1	NM_020311.1	6.30	***	3.40	***
EMILIN2	elastin microfibril interfacer 2	NM_032048.1	1.18	NS	0.82	NS
HSPA1B^e	heat shock 70 kDa protein 1B	NM_005346.3	2.71	*	1.34	NS
KDM5B^f	lysine (K)-specific demethylase 5B	NM_006618.2	3.74	***	1.58	*
KIAA0469^f	KIAA0469	XM_375685.1	3.22	***	2.04	**
MGC20983^d	hypothetical protein LOC115948	NM_145045.3		ND		ND
MKNK2^e	MAP kinase-interacting serine/threonine kinase 2	NM_017572.2	3.65	***	1.27	NS
MYC	myc proto-oncogene protein	NM_002467.2	1.20	NS	0.75	NS
SLAMF6	activating NK receptor precursor	NM_052931.3	1.09	NS	1.08	NS
TNFSF4^e	tumor necrosis factor (ligand) superfamily	NM_003326.2	1.66	*	0.99	NS

ND: Not determined; NS: Not significant; *: P < 0.05; **: P < 0.01; ***: P < 0.001
^a) Ratio was calculated as the mean expression from affected in the family divided by mean control expression
^b) Level of significance was calculated by students' t-test using expression data from patients with missense a change (n = 2) and controls (n = 5)
^c) Level of significance was calculated by students' t-test using expression data from patients premature termination (n = 2) and controls (n = 5)
^d)Genes with too low expression for reliable QRT-PCR evaluation
^e) Genes significantly deregulated in missense change carriers
^f) 3 genes that are significantly deregulated in affected from both families are marked in bold