Patients with NGPS exhibit clinical features consistent with a progeroid syndrome, including prematurely aged appearance, growth retardation, loss of subcutaneous fat, thin limbs and stiff joints, resembling Hutchinson-Gilford Progeria Syndrome (HGPS). A significant distinguishing feature, however, is the notably greater longevity observed in NGPS patients compared to individuals with classical progeria.
Crucially, in contrast to HGPS where cardiovascular defects are the leading cause of mortality, none of the reported NGPS have shown signs of diabetes, hypertriglyceridemia or cardiovascular abnormalities. Instead, NGPS is characterized by pronounced and progressive skeletal involvement. This includes evident osteolysis particularly affecting the mandible, clavicles, ribs, distal phalanges and long bones, alongside reduced bone density observable by X-rays, severe lumbar osteoporosis, and pronounced scoliosis. These severe skeletal manifestations significantly impact and compromise both their quality of life and life expectancy of affected individuals.
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