The main focus for this autosomal recessive disease is mutations to the EIF2AK3 gene. This gene is located on the short arm of chromosome 2 (2p11.2). In unrelated families, different mutations have been observed in the EIF2AK3 gene, including missense and nonsense mutations. For some cases for unrelated families, identical mutations were rarely observed. The EIKF2AK3 gene codes for PERK (pancreatic endoplasmic reticulum kinase), an explanation for the spectrum of symptoms. PERK is associated with the activity of beta cells in the pancreas. Beta cells are needed for the proper release of insulin into the blood stream after an increase in blood glucose. This kinase is needed for the control of protein levels in the endoplasmic reticulum and is linked to ribosome activity. The endoplasmic reticulum is a major protein sorting and processing center in every body cell. A broad range of bodily systems is affected, including pancreas, kidney, liver, bone, and nervous system, because of deficient stress response to improperly folded proteins inside the endoplasmic reticulum. This is part of the reason why patients suffer from multiple epiphyseal dysplasia and osteopenia.
Wolcott–Rallison syndrome
Wilson–Turner syndrome
Rabson–Mendenhall syndrome
Young–Madders syndrome
Hanhart syndrome
Smith–Lemli–Opitz syndrome
Kapur–Toriello syndrome
Landau–Kleffner syndrome