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

Table 2 Differentially expressed genes in lymphoblastoid cell lines from MR patients with changes in KDM5C.

			Missense change		Truncating mutation
Symbol	Protein	RefSeq ID	Ratio^a	Significance^b	Ratio^a	Significance^c
CETP^d	cholesteryl ester transfer protein, plasma	NM_000078.1	4.34	NS	8.57	*
CD55^e	decay accelerating factor for complement	NM_000574.2	2.03	*	1.88	NS
CMKOR1^f	chemokine orphan receptor 1	NM_020311.1	6.85	**	6.29	*
EMILIN2^f	elastin microfibril interfacer 2	NM_032048.1	2.34	***	2.49	***
HSPA1B^e	heat shock 70 kDa protein 1B	NM_005346.3	4.00	*	2.66	NS
KDM5B^e	lysine (K)-specific demethylase 5B	NM_006618.2	3.18	***	1.94	NS
KIAA0469^d	KIAA0469	XM_375685.1	1.52	NS	1.74	*
MGC20983^f	hypothetical protein LOC115948	NM_145045.3	2.72	*	2.94	*
MKNK2^f	MAP kinase-interacting serine/threonine kinase 2	NM_017572.2	2.07	*	2.40	**
MYC^f	myc proto-oncogene protein	NM_002467.2	2.54	**	2.89	**
SLAMF6^f	activating NK receptor precursor	NM_052931.3	2.71	**	2.41	*
TNFSF4^f	tumor necrosis factor (ligand) superfamily	NM_003326.2	0.20	**	0.12	**

NS: Not significant; *: P < 0.05; **: P < 0.01; ***: P < 0.001
^a) Ratio was calculated as the mean expression divided by mean control expression
^b) Level of significance was calculated by students' t-test using expression data from carriers of missense changes (n = 8)
^c) Level of significance was calculated by students' t-test using expression data from carriers of truncating mutations (n = 4)
^d) Genes significantly deregulated in truncating mutation carriers
^e) Genes significantly deregulated in missense change carriers
^f)7 genes that are significantly deregulated for both mutation types are marked in bold