For example, p.P724L(c.2171C>T) and p.G695V(c.2084G>T) of WFS1 have been reported to lead to WS and which cause the formation of detergent-insoluble aggregates of wolframin when was expressed in COS-7 cells24; the p.A684V(c.2051C>T) and p.L511P (c.1532T>C) were ectopically expressed in HEK293 cells which showed reduced protein levels compared to wild type wolframin, strongly indicating that the mutation is disease-causing21, 25. Here, WFS1 is linked to Werner syndrome.