Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases

BMC Gastroenterology

Ping Zhang¹  Ying Huang²  Zifei Tang²  Zhiheng Huang²  Ruiqin Zhao³  Chunlan Yin³  Min Ji⁴ 

[1] Center for Molecular Medicine, Pediatrics Research Institute, Children’s Hospital of Fudan University, 201102, Shanghai, China;Department of Gastroenterology, Children’s Hospital of Fudan University, 399 Wanyuan Road, Minhang District, 201102, Shanghai, China;Department of Gastroenterology, Children’s Hospital of Hebei Province, 050030, Shijiazhuang, China;Department of Radiology, Children’s Hospital of Fudan University, 201102, Shanghai, China;

关键词: Very early onset inflammatory bowel disease;    Interleukin 10 receptor A;    Large fragment deletions;    Exon 1;   

DOI  :  10.1186/s12876-021-01756-y

来源: Springer

【 摘 要 】

BackgroundDefects in interleukin 10 (IL10) and its receptors are particularly involved in very early onset inflammatory bowel disease (VEOIBD). However, large fragment deletions of IL10 receptor A (IL10RA) are rare.MethodsVEOIBD patients with confirmed mutations in the IL10RA gene were enrolled from January 1, 2019 to June 30, 2020. The clinical features and endoscopic-radiological findings of the patients with large fragment deletions of the IL10RA gene were determined and followed up.ResultsThirty-five patients with IL10RA gene mutations, namely, 28 compound heterozygous mutations and 7 homozygote mutations, were enrolled in this study. Six patients carried the reported point mutation c.301C > T (p. R101RW) or c.537 G > A (p. T179T) in one locus and a large fragment deletion in exon 1 in another locus, which were novel mutations in this gene. A 333-bp deletion of exon 1 (117857034–11857366 del) was the main mutation in this locus in 85.7% of the patients with large fragment deletions. The time of disease onset ranged from birth to 4 years, and diarrhea was the main initial symptom. In total, 6/7 patients had perianal complications, including perianal abscess, fistula and skin tags. Six patients accepted thalidomide treatment, 5/7 accepted mesalamine, 3/7 accepted hematopoietic stem cell transplantation (HSCT), and 3/7 were waiting for HSCT.ConclusionsWe identified a novel large deletion of exon 1 involving the IL10RA gene for the first time and showed the characteristics of VEOIBD patients. This study expands the spectrum of Chinese VEOIBD patients with IL0RA gene mutations.

【 授权许可】

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