The vast majority of HGPS patients are sporadic cases caused by a de novo heterozygous germline mutation c.1824C > T (p.G608G) which generates a cryptic splice site in exon 11 of LMNA, and leads to an in-frame deletion of 50 amino acids in pre-lamin A [16], [17]. The gene discussed is LMNA; the disease is Hutchinson-Gilford progeria syndrome.