Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease

Table 1 Genotypes of 13 patients diagnosed with very early-onset inflammatory bowel disease

Patient	Gene	Variation	Homo/Heterozygote	Function defect
1	IL-10RA	p.R101W	Homozygote	Yes
2	IL-10RA	p.R101W	Compound heterozygote	Yes
		p.V100G (novel mutation)		Pathogenic supporting by Polyphen 2 and SIFT
3	IL-10RA	p.R101W	Compound heterozygote	Yes
		p.Y64C (novel mutation)		Pathogenic supporting by Polyphen 2 and SIFT
4	IL-10RA	p.R117H (rs199989396)	Heterozygote	Yes
	NOD2	p.R703C (rs5743277)	Heterozygote	Susceptibility to CD recorded in HGMD
	FUT2	p.I140F (rs1047781)	Heterozygote	Susceptibility to CD in Chinese population reported by Hu et al[31]
5	IL-10RB	p.K47E (rs2834167)	Homozygote	SNP in a VEO-UC child reported by Galatola et al[29]
		p.E141K (rs387907326)	Heterozygote	Pathogenic supporting by Polyphen 2 and SIFT
	IL-10RA	p.P115P (rs22280554)	Homozygote	Susceptibility to VEO-IBD reported by Moran et al[30]
		p.I224V (rs22280555)	Homozygote
	FUT2	p.I140F (rs1047781)	Heterozygote	Susceptibility to CD in Chinese population reported by Hu et al[31]
6	IL-10RA	p.P115P (rs22280554)	Homozygote	Susceptibility to VEO-IBD reported by Moran et al[30]
		p.I224V (rs22280555)	Homozygote
	FUT2	p.I140F (rs1047781)	Homozygote	Susceptibility to CD in Chinese population reported by Hu et al[31]
7	IL-10RA	p.P115P (rs22280554)	Homozygote	Susceptibility to VEO-IBD reported by Moran et al[30]
		p.I224V (rs22280555)	Homozygote
	FUT2	p.I140F (rs1047781)	Heterozygote	Susceptibility to CD in Chinese population reported by Hu et al[31]
8	IL-10RB	p.K47E (rs2834167)	Homozygote	SNP in a VEO-UC child reported by Galatola et al[29]
	FUT2	p.I140F (rs1047781)	Heterozygote	Susceptibility to CD in Chinese population reported by Hu et al[31]
9	IL-10RB	p.K47E (rs2834167)	Heterozygote	SNP in a VEO-UC child reported by Galatola et al[29]
	FUT2	p.I140F (rs1047781)	Heterozygote	Susceptibility to CD in Chinese population reported by Hu et al[31]

Patients 10, 11, 12 and 13 were wild types in all these genes. CD: Crohn's disease; UC: Ulcerative colitis; VEO-IBD: Very early-onset inflammatory bowel disease; VEO-UC: Very early-onset ulcerative colitis; SNP: Single nucleotide polymorphism; HGMD: The Human Gene Mutation Database (http://www.hgmd.cf.ac.uk/ac/index.php).