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Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes rapid, premature aging and early death from cardiovascular disease and stroke (median age at death, 13 years). HGPS is almost always caused by a de novo point mutation in the lamin A gene (LMNA) that produces a truncated mutant protein called progerin. Progerin disrupts the nuclear membrane, alters transcription, and appears to accumulate in cells with normal aging.
These authors prospectively studied 15 children aged 1 year to 17 years who make up nearly half the world’s HGPS patients. The mean age at diagnosis in these children was 19 months; diagnosis was based on failure to thrive and skin abnormalities in all 15. Examination confirmed classic clinical fea…