Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease

Figure 1 Identification of a novel 333-bp deletion spanning interleukin 10 receptor alpha subunit exon1. A: Perianal skin tag; B: Endoscopic image of ulcerations; C: Sanger DNA sequencing verified a compound heterozygous variant (c.537G>A) inherited from the mother in patient B; D: Whole-genome sequencing (WGS) data showing sequencing read pairs at breakpoints chr:117857030 and chr:117857362 of interleukin 10 receptor alpha subunit (IL10RA); E: Polymerase chain reaction validated the heterozygous deletion of 333 bp spanning exon1 inherited from the father; F: WGS revealed compound heterozygous variants of IL10RA in patient B with very early-onset inflammatory bowel disease. bp: Base pair; HD: Healthy donor.