Mutations Involved in Premature-Ageing Syndromes.
Hutchinson–Gilford progeria syndrome
Néstor-Guillermo progeria syndrome
Werner syndrome
atypical progeroid syndromes
mandibuloacral dysplasia
restrictive dermopathy
Journal
The application of clinical genetics
ISSN: 1178-704X
Titre abrégé: Appl Clin Genet
Pays: New Zealand
ID NLM: 101579789
Informations de publication
Date de publication:
2021
2021
Historique:
received:
18
03
2021
accepted:
17
05
2021
entrez:
9
6
2021
pubmed:
10
6
2021
medline:
10
6
2021
Statut:
epublish
Résumé
Premature-ageing syndromes are a heterogeneous group of rare genetic disorders resembling features of accelerated ageing and resulting from mutations in genes coding for proteins required for nuclear lamina architecture, DNA repair and maintenance of genome stability, mitochondrial function and other cellular processes. Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best-characterized progeroid syndromes referred to as childhood- and adulthood-progeria, respectively. This article provides an updated overview of the mutations leading to HGPS, WS, and to the spectrum of premature-ageing laminopathies ranging in severity from congenital restrictive dermopathy (RD) to adult-onset atypical WS, including RD-like laminopathies, typical and atypical HGPS, more and less severe forms of mandibuloacral dysplasia (MAD), Néstor-Guillermo progeria syndrome (NGPS), atypical WS, and atypical progeroid syndromes resembling features of HGPS and/or MAD but resulting from impaired DNA repair or mitochondrial functions, including mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome and mandibuloacral dysplasia associated to
Identifiants
pubmed: 34103969
doi: 10.2147/TACG.S273525
pii: 273525
pmc: PMC8180271
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
279-295Informations de copyright
© 2021 Coppedè.
Déclaration de conflit d'intérêts
The author reports no conflicts of interest in this work.
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