Of these genes, LAMA4, ZEB2, CTNNAL1, ITGA6 and ITIH5 have previously been associated with Hirschsprung’s disease and ZEB2 was shown to genetically interact with SOX10 (Heanue and Pachnis 2006; Watanabe et al. 2017; Cai et al. 2018; Wang et al. 2020; Niu et al. 2020; Sun et al. 2021; Windster et al. 2023; He et al. 2023; Hou and Kang 2023). This evidence concerns the gene ITIH5 and Hirschsprung disease.