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Chapter 84 Progeria

The Hutchinson-Gilford progeria syndrome (HGPS) is a rare, fatal, sporadic, autosomal dominant disorder with an incidence of ≈1/4,000,000 live births. HGPS is regarded as the most prominent of the senile-like appearance syndromes. Sexual maturation is incomplete and these patients do not reproduce. Parent to child transmission has not occurred. The most prominent features of HGPS are changes that simulate accelerated aging, the recognition of which establishes the diagnosis. Genetic diagnosis is available; HGPS is caused by a single base mutation in LMNA, which results in the production of a mutant lamin A, progerin. Progerin is found in increased concentration in fibroblasts of normal older compared to younger individuals, suggesting a role in normal aging. The mean age of survival of children with HGPS is 13 yr, with a range of 5 to 20 yr, such that there are approximately 40 patients world wide at any point in time. A study of 15 patients, about 40% of the world’s population, revealed that all were heterozygous for the G608G mutation.