Table 2.

Clinical and genetic characteristics in patients with IRF2BPL mutations located before and after first PEST region on the variable domain.

	Variable region (N = 28)		p Value
	Before first PEST region (N = 15)	After first PEST region (N = 13)
Age of onset, years	11.11 ± 10.05	2.40 ± 1.48	0.002**
Male sex (n, %)	6 (40%)	7 (53.85%)	0.71
Ethnicity
Asian	3 (20%)	1 (7.69%)	0.60
Western	12 (80%)	11 (84.62%)	0.99
Unknown	0	1 (7.69%)	0.46
Mutation type
Frameshift	6 (40%)	7 (53.85%)	0.71
Nonsense	9 (60%)	4 (30.77%))	0.15
Missense	0	2 (15.38%)	0.21
Main clinical features
Initial global developmental delay	3 (21.43%, n = 14)	8 (66.67%, n = 12)	0.04*
Motor regression	10 (71.43%, n = 14)	0 (n = 12)	<0.001**
Language regression	6 (42.86%, n = 14)	1 (8.33%, n = 12)	0.08
Dystonia	8 (61.54%, n = 13)	0 (n = 10)	0.003**
Ataxia	12 (85.7%, n = 14)	2 (20%, n = 10)	0.003**
Pyramidal signs	9 (64.29%, n = 14)	3 (30%, n = 10)	0.21
Epilepsy	4 (28.57%, n = 14)	8 (72.73%, n = 11)	0.05
Brain MRI findings
Normal	5 (41.67%, n = 12)	6 (66.67%, n = 9)	0.39
Cerebral or cerebellar or brainstem atrophy	7 (58.33%, n = 12)	2 (22.22%, n = 9)	0.18
Abnormal corpus callosum	1 (8.33%, n = 12)	0 (n = 9)	0.98

Data are the number (%) or the mean ± SD. p‐Values that compare individual characteristics between four groups with different genotypes were evaluated with Fisher's exact test. Variables without a normal distribution were compared with the Kruskal–Wallis test.

^* p < 0.05;

^** p < 0.01.