An association of Hutchinson-Gilford progeria and malignancy.
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.
Shalev
Stavit A
SA
The Genetics Institute, Ha'Emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il
De Sandre-Giovannoli
Annachiara
A
Shani
Ayelet Adir
AA
Levy
Nicolas
N
D000375:Aging / Q000235:genetics; D001483:Base Sequence; D001859:Bone Neoplasms / Q000235:genetics*; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D012516:Osteosarcoma / Q000235:genetics*; D011371:Progeria / Q000175:diagnosis* / Q000235:genetics*
C494847:LMNA protein, human; D034904:Lamin Type A