Sci. Aging Knowl. Environ., 7 May 2003
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 Lévyhttp://sageke.sciencemag.org/cgi/content/abstract/sageke;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