Clinical characteristics and identification of a novel IL10RA variant in association with very early-onset inflammatory bowel disease.
10.3760/cma.j.cn511374-20210702-00564
- Author:
Rui DONG
1
;
Xiaoli FU
;
Haiying YANG
;
Yuexia BAI
;
Yuqiang LYU
;
Min GAO
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Institute of Pediatric Research, Children's Hospital Affilated to Shandong University(Jinan Children's Hospital) Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Genetic Testing;
Humans;
Infant;
Inflammatory Bowel Diseases/pathology*;
Mutation;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(9):992-995
- CountryChina
- Language:Chinese
-
Abstract:
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.
