Clinical characteristics and identification of a novel IL10RA variant in association with very early-onset inflammatory bowel disease

Abstract

To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations. Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members. The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous variants of the IL10RA gene, which has suggested the diagnosis of IL10RA-related very early-onset inflammatory bowel disease (VEOIBD). The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.