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Review
. 2021 Jan;99(1):3-28.
doi: 10.1111/cge.13837. Epub 2020 Sep 29.

Premature aging disorders: A clinical and genetic compendium

Franziska Schnabel  1 , Uwe Kornak  1 , Bernd Wollnik  1   2
Affiliations
Review

Premature aging disorders: A clinical and genetic compendium

Franziska Schnabel et al. Clin Genet. 2021 Jan.

Abstract

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.

Keywords: characteristic clinical features; hereditary; premature aging; progeroid disorders.

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References

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