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- Title
Identification of a de novo heterozygous mutation of ANKZF1 in a Chinese patient with inflammatory bowel disease.
- Authors
Huang, H; Yang, X; Tao, L; Xiang, R; Yang, H
- Abstract
Previous studies have revealed that deleterious I ANKZF1 i mutations may disrupt mitochondrial integrity and play a pathogenic role in the development of IBD in human.[5] No other meaningful mutations related to IBD have been identified in the proband. Learning point for clinicians At present, only five mutations of I ANKZF1 i have been identified in patients with inflammatory bowel disease (IBD). Our findings demonstrate the first case of IBD attributed to I ANKZF1 i heterozygous mutation (NM 018089.2: c.1243T>G; p.Leu415Val) in Asia, which expands our understanding of I ANKZF1 i mutations.
- Subjects
INFLAMMATORY bowel diseases; GENETIC mutation; CROHN'S disease; MITOCHONDRIAL pathology
- Publication
QJM: An International Journal of Medicine, 2023, Vol 116, Issue 6, p463
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad030