Table 1.

Genetic characteristics of patients with HNRNPU variants.

Patient ID	Age at DNA sampling	Sex	Variant Details (HNRNPU NM_004501.3)	Protein effect	Reported previously
Patient 1	2	Male	de novo deletion of exons 1–11	Haploinsufficiency	Patient-14 (Taylor et al., 2022 [27])
Patient 2	23	Female	de novo c.847_857del, p.(Phe283Serfs*5)	Truncating	Patient-13 (Durkin et al., 2021 [12])
Patient 3	12	Female	de novo c.23_24delTAinsA, p.(Val8Glufs*4)	Truncating	Patient-4 (Yates et al., 2017 [11])
Patient 4	24	Male	de novo c.1450 C > T, p.(Arg484*)	Truncating	Patient-3 (Durkin et al., 2021 [12])
Patient 5	3	Male	de novo c.1624dup p.(Gln542Pro*8)	Truncating	Not published
Patient 6	22	Female	de novo c.706_707del, p.(Glu236Thrfs*6)	Truncating	Patient-20 (Durkin et al., 2021 [12])
Patient 7	2	Male	de novo c.2365 C > T, p.(Arg789*)	Truncating	Not published