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Premature aging disorders: A clinical and genetic compendium.

Franziska SchnabelUwe KornakBernd Wollnik
Published in: Clinical genetics (2020)
Progeroid disorders make up a heterogeneous group of very rare hereditary diseases characterized by clinical signs that often mimic physiological aging in a premature manner. Apart from Hutchinson-Gilford progeria syndrome, one of the best-investigated progeroid disorders, a wide spectrum of other premature aging phenotypes exist, which differ significantly in their clinical presentation and molecular pathogenesis. Next-generation sequencing (NGS)-based approaches have made it feasible to determine the molecular diagnosis in the early stages of a disease. Nevertheless, a broad clinical knowledge on these disorders and their associated symptoms is still fundamental for a comprehensive patient management and for the interpretation of variants of unknown significance from NGS data sets. This review provides a detailed overview on characteristic clinical features and underlying molecular genetics of well-known as well as only recently identified premature aging disorders and also highlights novel findings towards future therapeutic options.
Keyphrases
  • copy number
  • healthcare
  • single molecule
  • depressive symptoms
  • genome wide
  • mass spectrometry
  • current status
  • atomic force microscopy
  • deep learning