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An association of Hutchinson–Gilford progeria and malignancy
Author(s) -
Shalev Stavit A.,
De SandreGiovannoli Annachiara,
Shani Ayelet Adir,
Levy Nicolas
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31803
Subject(s) - progeria , lmna , lamin , premature aging , genetics , medicine , biology , cancer research , gene
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.