Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China

Table 5 Genetic testing of very-early-onset inflammatory bowel disease patients

Patient	Sex	Age of disease onset	WES/TGPS	Genetic mutation	Location of mutation	Mutation of parents	Homo/Heterozygote	SIFT score/ prediction	Polyphen2 score/ prediction	MutationTaster score/ prediction
1	M	Neonate	Both	IL10RB	Chr21:34660499 c.737G>A p.W246X	Heterozygotic mutation of parents c.737G>A	Homozygote	-	-	6/D
2	F	4 mo	TGPS	IL10RA	Chr11:117860269 c.301C>T p.R101W Chr11:117864125 c.537G>A p.T179T	Heterozygotic mutation of father c.301C>T	Compound heterozygote	0/D	1/D	101/D
						mother c.537G>A		1/T	-	-
3	M	1 mo+	TGPS	IL10RA	Chr11:117860269 c.301C>T p.R101W	Heterozygotic mutation of father c.301C>T	Compound heterozygote	0/D	1/D	101/D
					Chr11:117864058 c.470A>G p.Y157C (rs1027503096)	mother c.470A>G		0.001/D	1/D	194/N
4	M	1 mo+	TGPS	IL10RA	Chr11:117860269 c.301C>T p.R101W	Heterozygotic mutation of parents c.301C>T	Homozygote	0/D	1/D	101/D
5	M	Neonate	TGPS	IL10RA	Chr11:117860269 c.301C>T p.R101W	Heterozygotic mutation of father c.301C>T	Compound heterozygote	0/D	1/D	101/D
					c.350G>A p.R117H (rs199989396)	mother c.350G>A		0.011/D	1/D	29/D
6	M	Neonate	TGPS	CYBB	ChrX:37658209 c.676C>T p.R226X (rs137854592)	Heterozygotic mutation of mother c.676C>T	Hemizygotic mutation	-	-	6/D
7	M	Neonate	TGPS	CYBB	ChrX:37642741 c.142-2A>G splicing	Heterozygotic mutation of mother c.142-2A>G	Hemizygotic mutation	-	-	-
8	M	9 mo	Both	TNFRSF13B	Chr17:16843819 c.452C>T p.P151L (rs200037919)	Heterozygotic mutation of father c.452C>T	Compound heterozygote	0.568/T	0.005/B	98/N
					Chr17:16852132 c.365G>A p.R122Q (rs755343222)	mother c.365G>A		0.485/T	0.136/B	43/N
9	M	5 yr 11 mo	TGPS	XIAP	ChrX:123022501 c.910G>T p.G304X	No mutation in parents	Hemizygotic mutation	-	-	6/D
10	F	5 yr 9 mo	TGPS	IL10RB	Chr21:34652146 c.421G>A p.E141K (rs387907326)	Heterozygotic mutation in father c.421G>A	Heterozygote	0.026/D	0.946/D	56/D
11	F	4 mo	WES	-
12	M	8 mo	WES	-
13	F	3 yr 3 mo	TGPS	-
14	F	4 yr	TGPS	-
15	M	1 yr 10 mo	WES	-
16	F	4 yr 8 mo	WES	-

TGPS: Targeted gene panel sequencing; WES: Whole exome sequencing.