Article
A dominant vimentin variant causes a rare syndrome with premature aging.
European journal of human genetics : EJHG - 1 Sept 2020
Cogné Benjamin, Bouameur Jamal-Eddine, Hayot Gaëlle, Latypova Xenia, Pattabiraman Sundararaghavan, Caillaud Amandine, Si-Tayeb Karim, Besnard Thomas, Küry Sébastien, Chariau Caroline, Gaignerie Anne, David Laurent, Bordure Philippe, Kaganovich Daniel, Bézieau Stéphane, Golzio Christelle, Magin Thomas M, Isidor Bertrand
Abstract excerpt
Progeroid syndromes are a group of rare genetic disorders, which mimic natural aging. Unraveling the molecular defects in such conditions could impact our understanding of age-related syndromes such as Alzheimer's or cardiovascular diseases. Here we report a de novo heterozygous missense variant in the intermediate filament vimentin (c.1160 T > C; p.(Leu387Pro)) causing a multisystem disorder associated with...
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