Table 1.

Clinical studies of CUL3 mutations in NDDs.

Ref	Setting	Case	Mutation	Phenotype characteristic
Nakashima et al. (28)	Case-report	3	One missense and two frameshift variants	Global DD, with or without epilepsy.
Iwafuchi et al. (29)	Case-report	1	De novo mutations	ASD: patient presented with febrile status epilepticus and developmental regression.
Kato et al. (16)	Case-report	1	De novo heterozygous missense variant	DD: ID, macrocephaly, distinctive facial features, and cutis marmorata.
Vincent and Bourque (30)	Case-report	1	A de novo splice site variant	Global DD with significant delays in gross motor and language development.
O'Roak et al. (9)	Case–control	677	De novo mutations	ASD
De Rubeis et al. (32)	Case–control	3,871	De novo LoF mutations	ASD
Hormozdiari et al. (8)	Case–control	1,116	De novo mutations	ASD and ID
Codina-Solà et al. (31)	Case–control	36	De novo mutations	ASD
Sanders et al. (33)	Case–control	10,220	De novo CNVs	ASD
Wang et al. (39)	Case–control	1,543	De novo and likely gene-disruptive mutations	ASD
Stessman et al. (34)	Case–control	>14,579	De novo mutations	NDDs
da Silva Montenegro et al. (35)	Case–control	>20,000	De novo mutations	NDDs
Zhou et al. (36)	Case–control	42,607	De novo and inherited LoF variants	ASD
Trost et al. (37)	Case–control	11,312	rare variants	ASD
Wang et al. (38)	Case–control	46,612	De novo mutations	ASD and DD

ASD, autism spectrum disorder; NDDs, neurodevelopmental disorders; DD, developmental delay; ID, intellectual disability; LoF, loss of function.