Sci. Aging Knowl. Environ., 7 May 2003
Vol. 2003, Issue 18, p. or5


Lamin A Truncation in Hutchinson-Gilford Progeria

Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, Pierre Cau, Claire Navarro, Jeanne Amiel, Irène Boccaccio, Stanislas Lyonnet, Colin L. Stewart, Arnold Munnich, Martine Le Merrer, and Nicolas Lévy;2003/18/or5

Abstract: Science 17 April 2003 (10.1126/science.1084125) (Science Express Reports)

Hutchinson-Gilford progeria syndrome (HGPS) is an exceedingly rare but typical progeria, characterized by postnatal growth retardation, midface hypoplasia, micrognathia, premature atherosclerosis and coronary artery disease, absence of subcutaneous fat, alopecia, and generalized osteoplasia with osteolysis and pathologic fractures. In this study, the authors describe mutations in the lamin A gene in patients with HGPS. The mutation is a single heterozygous mutation that leads to a major loss of lamin A expression.


Science of Aging Knowledge Environment. ISSN 1539-6150