VPS13B and Cowden syndrome 1: Following the previous finding, an examination of how autophagy is upregulated in CS patient-derived fibroblasts and neurons was conducted; previous findings showed that the mRNA level of VPS13B was significantly reduced (approximately 50%) in CS fibroblasts with heterogenous missense mutations (c.T1239G [p.Y413X] and c.G10333A [p.V3445M]) compared to control fibroblasts (under revision).