Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Tirosh, Irit; Spielman, Shiri; Barel, Ortal; Ram, Reut; Stauber, Tali; Paret, Gideon; Rubinsthein, Marina; Pessach, Itai M.; Gerstein, Maya; Anikster, Yair; Shukrun, Rachel; Dagan, Adi; Adler, Katerina; Pode-Shakked, Ben; Volkov, Alexander; Perelman, Marina; Greenberger, Shoshana; Somech, Raz; Lahav, Einat; Majmundar, Amar J.; Padeh, Shai; Hildebrandt, Friedhelm; Vivante, Asaf

doi:10.1186/s12969-019-0349-y

Table 3 Single gene causes of lupus or lupus-like syndrome in Humans

From: Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Mechanism	Gene Symbol	Protein	MOI	Phenotype	Ref	Human Disease [OMIM#]
Complement	C1QA	C1Q	AR	SLE in 88% Recurrent infections	[26]	120550
	C1QB		AR		[27]	120570
	C1QC		AR		[28]	120575
	C1R	C1R	AR	SLE in 65% Sjogren syndrome Recurrent infections	[29]	613785
	C1S	C1S	AR	SLE in 65% Sjogren syndrome Recurrent infections	[30]	120580
	C2	C2	AR	SLE in 10% Recurrent infections	[31]	613927
	C3	C3	AR	SLE in a minority of affected	[32]	120700
	C4	C4	AR	SLE in 75% Recurrent infections	[33]	142974
Type 1 interferon	TMEM173	STING	AD	STING associated vasculopathy with onset in infancy	[34]	612374
	SAMHD1	SAMHD1	AR	Mild Aicardi–Goutie` res syndrome Mouth ulcers Deforming arthropathy Cerebral vasculopathy	[35]	606754
	ADAR1	ADAR1	AR/AD	Aicardi–Goutie’res syndrome Bilateral striatal necrosis	[36]	146920
	IFIH1	IFIH1	AD	Classical or mild Aicardi–Goutie’res syndrome Singleton–Merton syndrome SLE	[36]	606951
	RNASEH2B	RNASEH2B	AR	Aicardi–Goutie’res syndrome	[36]	610326
	APC5	APC5	AR	SLE Sjogren syndrome Autoimmune cytopenias Raynaud phenomenon Recurrent infections Spondyloenchondrodysplasia	[37]	606948
	TREX1	TREX1	AR	Aicardi–Goutie’res syndrome	[36]	606609
Nucleic acids degradation	DNASE1	DNASE1	AD	SLE Sjogren syndrome	[38]	125505
	DNASE1L3	DNASE1L3	AR	SLE Hypocomplementemic urticarial vasculitis syndrome	[39]	602244
	TREX1	TREX1	AD	Aicardi–Goutie’res syndrome	[40]	606609
	RNASEH2A	RNASEH2A	AR	Aicardi–Goutie’res syndrome	[41]	606034
RAS/MAPK	SHOC2	SHOC2	AD	Noonan syndrome with loose anagen hair SLE	[42]	602775
	KRAS	KRAS	AD	Noonan syndrome SLE	[42]	190070
	PTPN11	PTPN11	AD	Noonan syndrome SLE (polyarthritis, photosensitivity, leukopenia and lymphopenia) Hashimoto thyroiditis	[42]	176876
Proteasome	PSMA3	PSMA3	AD	CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature)	[43]	176843
	PSMB4	PSMB4	AD		[43]	602177
	PSMB8	PSMB8	AD		[44]	177046
Apoptosis	TNFRSF6	FAS	AD	ALPS	[45]	134637
Apoptosis	FASLG	FASL	AD	ALPS SLE with lymphoadenopathies	[8]	134638
Tolerance	PRKCD	PRKCD	AR	SLE (Malar rash & nephritis 100%)	[46]	176977
Tolerance	RAG2	RAG2	AR/AD	SCID Omenn syndrome SLE	[47]	179616
Phagocytes oxidase system	CYBB	NADPH oxidase 2	X-linked	Chronic granulomatous disease Cutaneous lupus erythematosus SLE	[48]	300481
DNA repair	NEIL3	NEIL3	AR	Autoimmune cytopenias Chronic diarrhea Recurrent Infections	[49]	608934
AKT/PKB	PTEN	PTEN	AD	SLE Malignancy Bannayan–Riley–Ruvalcaba syndrome Cowden syndrome	[50]	601728
Collagen degradation	PEPD	PEPD	AR	Prolidase deficiency Leg ulcers SLE	[51]	613230
Amino acid transporter	SLC7A7	SLC7A7		Lysinuric protein intolerance SLE	[52]	603593
Carbohydrate catabolism	MAN2B1	Lysosomal α mannosidase	AR	Alpha-mannosidosis SLE	[16]	609458

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