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An association of Hutchinson–Gilford progeria and malignancy

Authors

  • Stavit A. Shalev,

    Corresponding author
    1. The Genetics Institute, Ha'Emek Medical Center, Afula, Israel
    2. The Rappaport Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel
    • The Genetics Institute, Ha'Emek Medical Center, Afula 18101, Israel.
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  • Annachiara De Sandre-Giovannoli,

    1. Inserm U491, Genetique Medical et Developpement, Universite de la Mediterranee, Faculte de Medecine, Marseille, Cedex, France
    2. Département de Génétique Médicale, APHM, Hôpital d'enfants de la Timone, Marseille, Cedex, France
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  • Ayelet Adir Shani,

    1. The Department of Dermatology, Ha'Emek Medical Center, Afula, Israel
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  • Nicolas Levy

    1. Inserm U491, Genetique Medical et Developpement, Universite de la Mediterranee, Faculte de Medecine, Marseille, Cedex, France
    2. Département de Génétique Médicale, APHM, Hôpital d'enfants de la Timone, Marseille, Cedex, France
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  • How to cite this article: Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. 2007. An association of Hutchinson–Gilford progeria and malignancy. Am J Med Genet Part A 143A: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. © 2007 Wiley-Liss, Inc.

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