An association of Hutchinson–Gilford progeria and malignancy
- 6 July 2007
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 143A (16) , 1821-1826
Abstract
Mutations in the LMNA gene encoding lamins A/C are responsible for a variety of disorders, commonly referred to as “laminopathies,” including the segmental premature aging syndrome Hutchinson–Gilford progeria. We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11‐year‐old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation. These findings are discussed in light of recent data on the pathophysiological mechanisms underlying progeria and “physiological” aging in human, as well as previous data on other well‐known segmental aging syndromes.Keywords
This publication has 45 references indexed in Scilit:
- The truncated prelamin A in Hutchinson–Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymersHuman Molecular Genetics, 2006
- Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regenerationBrain, 2006
- LMNA mutations in atypical Werner's syndromeThe Lancet, 2003
- Lamin A Truncation in Hutchinson-Gilford ProgeriaScience, 2003
- Cancer and ageing: rival demons?Nature Reviews Cancer, 2003
- Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndromeNature, 2003
- Cellular senescence as a tumor-suppressor mechanismTrends in Cell Biology, 2001
- The Werner Syndrome Protein Is Involved in RNA Polymerase II TranscriptionMolecular Biology of the Cell, 1999
- DNA-dependent Protein Kinase-independent Activation of p53 in Response to DNA DamageJournal of Biological Chemistry, 1999
- Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumoursNature, 1992