Ontology highlight
ABSTRACT:
SUBMITTER: Cogne B
PROVIDER: S-EPMC7609319 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Cogné Benjamin B Bouameur Jamal-Eddine JE Hayot Gaëlle G Latypova Xenia X Pattabiraman Sundararaghavan S Caillaud Amandine A Si-Tayeb Karim K Besnard Thomas T Küry Sébastien S Chariau Caroline C Gaignerie Anne A David Laurent L Bordure Philippe P Kaganovich Daniel D Bézieau Stéphane S Golzio Christelle C Magin Thomas M TM Isidor Bertrand B
European journal of human genetics : EJHG 20200217 9
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 frontonasal dysostosis and premature aging in a 39-year-old individual. Human vimentin p ...[more]