Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE)

Natoli, Valentina; Charras, Amandine; Hahn, Gabriele; Hedrich, Christian M.

doi:10.1186/s40348-023-00161-7

Molecular and Cellular Pediatrics

Table 3 Presumably damaging variants identified in the UK jSLE cohort [5]

From: Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE)

Gene variants	Predicted effect (snpEFF, ClinVar, snpNexus and PubMed)	Zygosity	Predicted impact	Reported inheritance patterns	Reference (first reported)
C1S (rs117907409)	Deleterious	Heterozygous	Disease-causing	AD	[76]
SAMHD1 (c.811C>A)	Impacts catalytic activity	Heterozygous	Disease-causing or -modifier	AD/AR	[77]
C3 (rs117793540)	Gain-of-function	Heterozygous	Disease-causing	AD/AR	[78, 79]
TREX1 (rs1331920811)	Loss-of-function	Heterozygous	Disease-causing or -modifier	AD/AR	[80]
SAMHD1 (c.811C>A)	Impacts catalytic activity	Heterozygous	Disease-causing or -modifier	AD	[77]
IRF7 (c.-283-1G>T)	Loss-of-function	Heterozygous	Disease-modifier	AR	—
C3 (c.4341C>A)	Loss-of-function	Heterozygous	Disease-causing or -modifier	AD/AR	—
RNASEH2B (c.184G>T)	Deleterious	Heterozygous	Disease-modifier	AR	—
BANK1 (rs928173624)	Loss-of-function	Heterozygous	Disease-causing or -modifier	N/A	[81, 82]
PTPN22 (c.369+1G>T)	In silico predicted ‘high impact’	Heterozygous	Disease-causing	AD	—
TNFAIP3 (rs776714084)	Loss-of-function	Heterozygous	Disease-causing	AD	—
RNASEH2A (rs549586181)	Loss-of-function	Heterozygous	Disease-modifier	AR	[80]
C3 (c.1303G>T)	Loss-of-function	Heterozygous	Disease-modifier	AD/AR	—
TNFSF4 (c.368_369delAG)	Loss-of-function	Heterozygous	Disease-modifier	N/A	—
RNASEH2C (rs759118175)	Loss-of-function	Heterozygous	Disease-modifier	AR	—
TREX1 (rs749323787)	Impacts catalytic activity	Heterozygous	Disease-causing	AD/AR	[82]
SAMHD1 (rs1400380009)	Loss-of-function	Heterozygous	Disease-causing	AD/AR	—
PEPD (rs529315200)	Loss-of-function	Heterozygous	Disease-modifier	AR	[83]
DNASE1 (rs201571412)	Loss-of-function	Heterozygous	Disease causing	AD	[84]

AD autosomal dominant, AR autosomal recessive, BANK1 B cell scaffold protein with ankyrin repeats 1, C1S complement component C1S, C3 complement C3, DNASE1 deoxyribonuclease 1, IRF7 interferon regulatory factor 7, N/A not available, PEPD peptidase D, PTPN22 protein tyrosine phosphatase non-receptor type 22, RNASEH2A ribonuclease H2 subunit A, RNASEH2B ribonuclease H2 subunit B, RNASEH2C ribonuclease H2 subunit C, SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1, TNFAIP3 TNF-α-induced protein 3, TNFSF4 TNF superfamily member 4, TREX1 three prime repair exonuclease 1

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