LMNA and Hutchinson-Gilford progeria syndrome: HGPS is primarily caused by a heterozygous single-point de novo mutation in the lamin A (LMNA) (c.1824 C > T; p.G608G), resulting in a cryptic splice site in exon 11 and the loss of 50 amino acids at the C-terminus of lamin A. The truncated prelamin A protein is known as progerin.