It was first implicated as a target of MVID-causing mutations by Wiegernick et al. in 2014, who identified the homozygous mutations p.Arg247* and p.Arg125Leufs*7 in two patients with MVID phenotypes but no detectable MYO5B mutations (Wiegerinck et al. 2014). The gene discussed is MYO5B; the disease is microvillus inclusion disease.