一例极早发型炎症性肠病患儿的临床及IL10RA基因变异分析

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

目的对一例在婴儿期出现肛周病变、腹泻及多处肠穿孔的患儿进行临床和遗传学分析。方法采用新一代外显子目标区域捕获测序技术对患儿进行基因变异检测,对家系成员进行疑似致病性变异的Sanger测序检测。结果基因测序检测到IL10RA基因c.301C>T和c.188+1G>A复合杂合变异(其中c.188+1G>A变异未见报道)。患儿被诊断为IL10RA相关极早发型炎症性肠病,给予相应治疗并随访16个月。结论患儿确诊为IL10RA相关极早发型炎症性肠病。新发现的c.188+1G>A变异扩大了IL10RA基因的变异谱。

Objective To carry out clinical and genetic analysis for an infant manifesting perianal lesions,diarrhea and multiple intestinal perforations.Methods 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.Results 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(VEO-IBD).Conclusion The patient was diagnosed with IL10RA-related VEO-IBD.The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.