Hutchinson - Gilford syndrome (Progeria): Clinical and Postmortem Findings

Abstract

Hutchinson-Gilford Progeria syndrome, a rare genetic syndrome is being reviewed in this communication. It has striking features  resembling premature aging. In most patients, Hutchinson-Gilford Progeria syndrome is caused by new genetic changes that occur  randomly for unknown reasons. These changes (mutations) are transmitted as an autosomal dominant trait. Involving aberrant splicing of  the LMNAgene, resulting in the production of a disease-causing mutant lamin Aprotein called progerin. Because neither parent carries or  expresses the mutation, each case is believed to represent a sporadic, new mutation that happens most notably in a single sperm or egg  immediately prior to conception. Children with progeria usually have a normal appearance in early infancy. At approximately six months  of age, there are profound growth delays, resulting in low weight, premature bodily aging (progeria) and dwarfism. They have a birdlike,  “wizened old man” facial appearance. These individuals die because of atherosclerosis and myocardial infarction. In this review article,  we have reviewed several studies and reports regarding the genetic basis, diagnoses with characteristics and development of Hutchinson -  Gilford syndrome (HGPS) or progéria. This review summarizes the clinical characteristics of this disease, the underlying mutation in the  lamin A (LMNA) gene that results in this phenotype and PM findings through articles found in the databases: PubMed Central, Scielo,  BVS, Bireme, Scientific Electronic Library Online etc.