In HGPS, a mutation in the LMNA gene produces progerin, a defective variant of lamin A that remains permanently associated with the NE and disrupts repair mechanisms (fig. 1). Because progerin's ...

1824C>T; p.G608G) in the LMNA gene that results in the accumulation of progerin, an aberrant form of lamin A that, unlike mature lamin A, remains permanently farnesylated. The ratio of progerin to ...