Progerin

Progerin is a truncated version of lamin A protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a silent point mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids near the C-terminus. Approximately 80% of Hutchinson-Gilford progeria syndrome cases are heterozygous for this silent point mutation within exon 11 of the LMNA gene.