Table 2. All mutations identified in NCSTN, PSEN1, PSENEN, and POGLUT1 for acne inversa patients to date.

No.	Familial/sporadic	Gene	Exon	Mutation type	Nucleotide mutation	Protein alteration	Origin
1	Familial	NCSTN	Ex3	Frameshift	c.210-211delAG	p.Thr70fs18X	Chinese
2	Familial	NCSTN	Ex3	Missense	c.223G>A	p.Val75lle	Chinese
3	Familial	NCSTN	Ex4	Nonsense	c.218delC	p.P73Lfs*15	Chinese
4	Familial	NCSTN	Ex4	Nonsense	c.349C>T	p.Arg117X	Chinese African
5	Case	NCSTN	Ex5	Missense	c.553G>A	p.Asp185Asn	British
6	Familial	NCSTN	Int5	Splice site	c.582+1delG	p. F145fs_X54	Japanese
7	Familial	NCSTN	Ex5	Frameshift	c.487delC	p.Gln163SerfsX39	French
8	Familial	NCSTN	Ex5	Nonsense	c.477C>A	p.C159X	Chinese
9	Familial	NCSTN	Ex6	Nonsense	c.617C>A	p.S206X	Chinese
10	Case	NCSTN	Ex6	Missense	c.632C>G	p.P211R	Chinese
11	Familial	NCSTN	Ex6	Missense	c.647A>C	p.Q216P	Chinese
12	Familial	NCSTN	Ex6	Frameshift	c.687insCC	p.Cys230ProfsX31	Indian
13	Case	NCSTN	Int8	Splice site	c.996+7G>A	p.L282_G332del	British
14	Familial	NCSTN	Ex8	Missense	c.944C>T	p.Ala315Val	Chinese
15	Familial	NCSTN	Int9	Splice site	c.1101+1G>A	p.E333_Q367del	British
16	Case	NCSTN	Int9	Splice site	c.1101+10A>G	p.E333_Q367del	African
17	Familial	NCSTN	Int11	Splice site	c.1352+1G>A	p.Q393fs_X9	Chinese
18	Familial	NCSTN	Ex11	Nonsense	c.1300C>T	p.Arg434X	French
19	Familial	NCSTN	Ex11	Nonsense	c.1258C>T	p.Q420X	Chinese
20	Familial	NCSTN	Int11	Splice site	c.1180-5C>G		British
21	Familial	NCSTN	Int13	Splice site	c.1551+1G>A	p.A486-T517del	Chinese
22	Familial	NCSTN	Ex15	Frameshift	c.1752delG	p.E584DfsX44	Chinese
23	Familial	NCSTN	Ex15	Nonsense	c.1635C>G	p.Tyr545	Iranian
24	Familial	NCSTN	Ex15	Nonsense	c.1695T>G	p.Y565X	Chinese
25	Familial	NCSTN	Ex15	Missense	c.1768A>G	p.Ser590AlafsX3	French
26	Familial	NCSTN	Ex15	Nonsense	c.1702C>T	p.Gln568Term	Japanese
27	Familial	NCSTN	Ex16	Nonsense	c.1799delTG	p.Leu600X	Indian
1	Familial	PSENEN	Ex3	Frameshift	c.66delG	p.F23LfsX46	Chinese
2	Familial	PSENEN	Ex3	Frameshift	c.279delC	p.F94SfsX51	Chinese
3	Familial	PSENEN	Ex3	Frameshift	c.66-67insG	p.F23VfsX98	British
4	Familial	PSENEN	Ex3	Splice site	c.167-2A>G	p.G55-101Pdel	Chinese
5	Familial	PSENEN	Ex3	Missense	c.194T>G	p.L65R	Chinese
6	Case	PSENEN	Ex3	Nonsense	c.168T>G	p.Y56X	Germany
1	Familial	PSEN1	Ex7	Frameshift	c.725delC	p.P242LfsX11	Chinese
2	Familial	PSEN1	Ex9	Nonsense	c.953A> G	p.Glu318Gly	British
1	Case	POFUT1	Ex9	Nonsense	c.814C>T	p.R272*	Caucasian
2	Case	POFUT1	Ex4	Splice site	c.430-1G>A	p.K246_392Ldel	Caucasian

Int: intron, Ex: exon.