TABLE 3.

NDD-causing genes encoding DUB and associated syndromes.

Gene	OMIM	Syndrome	References	Described regulator of:	References
ATXN3	109150	MACHADO-JOSEPH DISEASE	Kawaguchi et al. (1994)	Antiviral immunity	Feng et al. (2018)
OTUD5	301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED	Beck et al. (2021); Tripolszki et al. (2021)	Antiviral immunity	Guo et al. (2020a)
OTUD6B	617452	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES	Santiago-Sim et al. (2017)	B-lymphocyte proliferation	Xu et al. (2011)
OTUD7A	612001	CHROMOSOME 15q13.3 DELETION SYNDROME	Hoppman-Chaney et al. (2013)	DNA repair	Wu et al. (2019)
STAMBP	614261	MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME	Hori et al. (2018)	Inflammasome	Bednash et al. (2017, 2021)
UCHL1	615491, 613643	SPASTIC PARAPLEGIA 79, PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	Leroy et al. (1998)	TLR signaling	Karim et al. (2013)
USP7	616863	HAO-FOUNTAIN SYNDROME	Hao et al. (2015)	TLR signaling, antiviral immunity, NF-κB signalling, T-cell differentiation, Inflammasome	Daubeuf et al. (2009); Colleran et al. (2013); van Loosdregt et al. (2013); Cai et al. (2018); Palazon-Riquelme et al. (2018)
USP9X	300919; 300968	MENTAL RETARDATION, X-LINKED 99; MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED	Homan et al. (2014)	T-cell signaling; TLR signaling	Naik et al. (2014); Naik and Dixit (2016); Xiang et al. (2019)
USP18	617397	PSEUDO-TORCH SYNDROME 2	Meuwissen et al. (2016)	Antiviral immunity	Ritchie et al. (2004)
USP27X	300984	MENTAL RETARDATION, X-LINKED 105	Hu et al. (2016)	Antiviral immunity	Guo et al. (2019); Tao et al. (2020)

The potential implication of the gene products in the regulation of innate and/or adaptive is indicated. When available, the OMIM (Online Mendelian Inheritance in Man^®) disorder number is also reported.