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

Autor:	Dong R; Institute of Pediatric Research, Children's Hospital Affilated to Shandong University(Jinan Children's Hospital) Jinan, Shandong 250022, China. liuyi-ly@126.com., Fu X, Yang H, Bai Y, Lyu Y, Gao M, Gai Z, Liu Y
Jazyk:	čínština
Zdroj:	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2022 Sep 10; Vol. 39 (9), pp. 992-995.
DOI:	10.3760/cma.j.cn511374-20210702-00564
Abstrakt:	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 (VEOIBD). Conclusion: The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.
Databáze:	MEDLINE
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