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. 2024 Apr 22;11(6):1557–1566. doi: 10.1002/acn3.52072

Table 1.

Clinical and genetic features in patients with IRF2BPL mutations in different protein domain derived from previous literature and the current study.

Poly Q domain (N = 29) Poly A domain (N = 2) Variable region (N = 28) C3HC4 domain (N = 2) p Value
Age of onset, years 9.51 ± 8.14 7.75 ± 5.25 7.27 ± 8.73 3.25 ± 1.75 0.06
Male sex (n, %) 6 (46.1%, n = 13) 1 (50%) 13 (46.43%) 1 (50%) 0.99
Ethnicity
Asian 1 (3.45%) 0 4 (14.29%) 0 0.43
Western 28 (96.55%) 2 (100%) 23 (82.14%) 2 (100%) 0.41
Unknown 0 0 1 (3.57%) 0 0.52
Mutation type
Frameshift 0 2 (100%) 13 (46.43%) 2 (100%) <0.001***
Nonsense 29 (100%) 0 13 (46.43%) 0 <0.001***
Missense 0 0 2 (7.14%) 0 0.33
Main clinical features
Initial global developmental delay 6 (27.27%, n = 22) 0 11 (42.31%, n = 26) 1 (50%) 0.48
Motor regression 5 (22.73%, n = 22) 2 (100%) 10 (38.46%, n = 26) 0 0.09
Language regression 2 (10%, n = 20) 0 7 (26.92%, n = 26) 0 0.44
Dystonia 11 (39.29%, n = 28) 1 (50%) 8 (34.78%, n = 23) 0 0.82
Ataxia 25 (86.21%) 1 (50%) 14 (50%, n = 24) 1 (50%) 0.04*
Pyramidal signs 16 (55.17%) 1 (50%) 12 (50%, n = 24) 1 (50%) 0.94
Epilepsy 13 (92.86%, n = 14) 1 (50%) 12 (48%, n = 25) 1 (50%) 0.008**
Brain MRI findings
Normal 4 (28.57%, n = 14) 2 (100%) 11 (52.38%, n = 21) 1 (50%) 0.22
Cerebral or cerebellar or brainstem atrophy 5 (35.71%, n = 14) 0 9 (42.86%, n = 21) 1 (50%) 0.78
Corpus callosum atrophy 4 (28.57%, n = 14) 0 1 (4.76%, n = 21) 0 0.25
*

p < 0.05;

**

p < 0.01.

***

p < 0.001.