Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases

doi:10.3748/wjg.v27.i1.92

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World Journal of Gastroenterology

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World J Gastroenterol. Jan 7, 2021; 27(1): 92-106
Published online Jan 7, 2021. doi: 10.3748/wjg.v27.i1.92

Table 1 Genotypes of 49 infantile-onset inflammatory bowel disease patients

Patient	Gene	Variant (allele 1)	Amino acid	ACMG (P/LP)	Variant (allele 2)	Amino acid	ACMG (P/LP)
Patient	Gene	Variant (allele 1)	Amino acid	ACMG (P/LP)	Variant (allele 2)	Amino acid	ACMG (P/LP)
1	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
2	IL10RA	c.299T>G	V100G	P (PS1+PS3+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
3	IL10RA	c.191A>G	Y64C	LP (PM1+PM2+PM3+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
4	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
5	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
6	IL10RA	c.493C>T	R165X	P (PVS1+PS1+PM2+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
7	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
8	IL10RA	c.350G>A	R117H	P (PS1+PM1+PM2+PP3+PP4)	c.493C>T	R165X	P (PVS1+PS1+PM2+PP4)
9	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.436delC	P146fs	P (PVS1+PS1+PM2+PP4)
10	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
11	IL10RA	c.421G>A	G141R	P (PS1+PM2+PM3+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
12	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
13	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.350G>A	R117H	P (PS1+PM1+PM2+PP3+PP4)
14	IL10RA	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
15	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
16	IL10RA	c.99G>A	W33X	P (PVS1+PS1+PM2+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
17	IL10RA	c.493C>T	R165X	P (PVS1+PS1+PM2+PP4)	c.493C>T	R165X	P (PVS1+PS1+PM2+PP4)
18	IL10RA	c.109G>T	E37X	LP (PVS1+PM2+PM3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
19	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
20	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
21	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
22	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.350G>A	R117H	P (PS1+PM1+PM2+PP3+PP4)
23	IL10RA	c.99G>A	W33X	P (PVS1+PS1+PM2+PP4)	c.299T>G	V100G	P (PS1+PS3+PM2+PP3+PP4)
24	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
25	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
26	IL10RA	c.301C>T	R101W	P(PS1+PS3+PM1+PM2+PP3+PP4)	c.493C>T	R165X	P (PVS1+PS1+PM2+PP4)
27	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
28	IL10RA	c.493C>T	R165X	P (PVS1+PS1+PM2+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
29	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
30	IL10RA	c.302G>A	R101Q	LP (PM1+PM2+PM3+PM5+PP3+PP4)	c.349C>T	R117C	P (PS1+PM1+PM2+PP3+PP4)
31	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
32	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
33	IL10RA	c.299T>G	V100G	P (PS1+PS3+PM2+PP3+PP4)	c.569T>G	F190C	LP (PS1+PM2+PM3_VeryStrong+PP3+PP4)
34	IL10RA	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
35	IL10RA	c.299T>G	V100G	P (PS1+PS3+PM2+PP3+PP4)	c.299T>G	V100G	P (PS1+PS3+PM2+PP3+PP4)
36	WAS	IVS8: +3- +6 GAGT del		LP (PS1+PM2+PP3+PP4)
37	IKBKG	c.1217A>T	D406V	P (PS1+PM1+PM2+PP3+PP4)
38	SLC37A4	c.310 ins T		P (PVS1+PM2+PP4)	c.1014-1120 del107		P (PVS1+PM2+PP4)
39	CYBB	c.674+2T>C		P (PVS1+PM2+PP4)
40	CYBB	c.1272G>A	W424X	P (PVS1+PS1+PM2+PP4)
41	CD40LG	c.267delC	Q90Sfs*6	LP (PVS1+PM2+PP4)
42	LIG4	c.833G>T	R278L	LP (PM1+PM2+PM3+PM5+PP3+PP4)	c.1144_1145delCT	L382Efs*5	LP (PVS1+PS1+PM2+PP4)
43	CARD11	c.155T>C	I52T	LP (PS2+PM2+PP4)
44	PIK3CD	c.3061G>A	E1021K	P (PS1+PS3+PM2+PP3+PP4)
45	IL10RA	c.350G>A	R117H	P (PS1+PM1+PM2+PP3+PP4)
46	IL10RA	c.537G>A	T179T	P (PS1+PS3+PM2+PP3+PP4)
47	IL10RA	c.787C>T	R263X	LP (PVS1+PM2+PP4)
48	IL10RA	c.301C>T	R101W	P (PS1+PS3+PM1+PM2+PP3+PP4)
49	CXCR4	c.1001G>A	R334Q	VUS (PM2+PP3+PP4:BS4)

ACMG: American College of Medical Genetics and Genomics; P/LP: Pathogenic/likely pathogenic; VUS: Variants of uncertain significance.

Citation: Su W, Yu Y, Xu X, Wang XQ, Huang JB, Xu CD, Xiao Y. Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases. World J Gastroenterol 2021; 27(1): 92-106
URL: https://www.wjgnet.com/1007-9327/full/v27/i1/92.htm
DOI: https://dx.doi.org/10.3748/wjg.v27.i1.92