Identification of a de novo heterozygous mutation of ANKZF1 in a Chinese patient with inflammatory bowel disease.

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. [Extracted from the article]