SNP Shot: Genomic Insights

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder that causes children to age rapidly and prematurely. Infants with HGPS usually appear normal initially, but their growth slows, and they experience failure to thrive. They develop distinctive facial features, including prominent eyes, a thin, beaked nose, thin lips, a small chin, and protruding ears. Other common features of HGPS include hair loss (alopecia), aged skin, joint problems, and a loss of subcutaneous fat. Importantly, HGPS does not impair cognitive abilities or motor skill development.

A major health concern for individuals with HGPS is the early and severe onset of arteriosclerosis, or hardening of the arteries. This dramatically increases their risk of life-threatening heart attacks and strokes at a young age, and these cardiovascular complications tend to worsen with time.

Inheritance:

HGPS is typically described as an autosomal dominant condition. However, it almost always arises from a spontaneous, new mutation in the LMNA gene. Therefore, it's very rare for individuals with HGPS to have a family history of the disorder.