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

Learning point for cliniciansAt present, only five mutations of ANKZF1 have been identified in patients with inflammatory bowel disease (IBD).This study identified a novel variant of ANKZF1 (NM_018089.2:c.1243T>G; p.Leu415Val) in a young patient with IBD.Our findings demonstrate the first case of IBD attributed to ANKZF1 heterozygous mutation in Asia, which broadens the variant spectrum of ANKZF1 and contributes to a more quickly genetic counseling.