WIPI2 V249M mutation found in a family with a complex developmental syndrome


  • The complex developmental condition experienced by several members of a large consanguineous family may be due to altered autophagosome function caused by a homozygous recessive mutation in the WD-repeat protein interacting with phosphoinositide 2 gene (WIPI2) gene.

Why this matters

  • This study adds to the evidence linking autophagy to genetic diseases and provides a deeper understanding of the etiology of the developmental syndrome in the study.