• Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (PRF; PubMed=12714972).
  

PubMed=12714972; DOI=10.1038/nature01629; PMCID=PMC10540076
Maria Eriksson, W. Ted Brown, Leslie Beth Gordon, Michael W. Glynn, Joel Singer, Laura Scott, Michael R. Erdos, Christiane M. Robbins, Tracy Y. Moses, Peter Berglund, Amalia Dutra ...Show all 17 authors... , Evgenia Pak, Sandra Durkin, Antonei Benjamin Csoka, Michael Boehnke, Thomas W. Glover, Francis Sellers Collins; Show fewer authors
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

PubMed=16126733; DOI=10.1093/hmg/ddi326
Michael W. Glynn, Thomas W. Glover;
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Hum. Mol. Genet. 14:2959-2969(2005)

PubMed=19958786; DOI=10.1016/j.mad.2009.11.006; PMCID=PMC2837844
Gabriela Viteri, Youn Wook Chung, Earl Reece Stadtman;
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
Mech. Ageing Dev. 131:2-8(2010)

PubMed=23213444; DOI=10.1242/bio.20121149; PMCID=PMC3509444
Vera Wenzel, Daniela Roedl, Diana Gabriel, Leslie Beth Gordon, Meenhard Herlyn, Reinhard Schneider, Johannes Ring, Karima Djabali;
Naive adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Biol. Open 1:516-526(2012)

PubMed=36139359; DOI=10.3390/cells11182784; PMCID=PMC9497314
Hai-Huan Lin, Juliane Mensch, Anna Maria Haschke, Kathrin Jager, Brigitte Kottgen, Jens Dernedde, Evelyn Orso, Michael Walter;
Establishment and characterization of hTERT immortalized Hutchinson-Gilford progeria fibroblast cell lines.
Cells 11:2784.1-2784.13(2022)