• Mutation; 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 (PubMed=12714972; Coriell=AG11513).
  

CLPUB00597
National Institute on Aging
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(In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994)

PubMed=12714972; DOI=10.1038/nature01629
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

PubMed=15268757; DOI=10.1111/j.1474-9728.2004.00105.x
Csoka A.B., English S.B., Simkevich C.P., Ginzinger D.G., Butte A.J., Schatten G.P., Rothman F.G., Sedivy J.M.
Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis.
Aging Cell 3:235-243(2004)

PubMed=28855503; DOI=10.1038/s41467-017-00322-z
Buchwalter A., Hetzer M.W.
Nucleolar expansion and elevated protein translation in premature aging.
Nat. Commun. 8:328.1-328.13(2017)

PubMed=30567591; DOI=10.1186/s13059-018-1599-6
Fleischer J.G., Schulte R., Tsai H.H., Tyagi S., Ibarra A., Shokhirev M.N., Huang L., Hetzer M.W., Navlakha S.
Predicting age from the transcriptome of human dermal fibroblasts.
Genome Biol. 19:221.1-221.8(2018)