The BANF1 gene encodes Barrier-to-autointegration factor 1 (BAF), a nuclear envelope protein involved in chromatin organization and nuclear assembly. Néstor-Guillermo Progeria Syndrome (NGPS) is an ultrarare autosomal recessive disorder caused by the specific c.34G>A (p.Ala12Thr) mutation in this gene. To date, fewer than 20 affected individuals have been identified worldwide.
The syndrome is characterized by growth retardation, loss of subcutaneous fat, thin limbs, stiff joints and prematurely aged appearance. The syndrome also presents with severe bone involvement, which might compromise the life quality and expectancy of patients. Specifically, skeletal manifestations include undeveloped midface, hypoplastic or absent clavicles, acro-osteolysis, generalized osteoporosis and thorax deformity. Notably, in contrast to classical progeroid syndromes such as Hutchinson-Gilford Progeria Syndrome (HGPS), patients with NGPS have not exhibited typical metabolic complications like diabetes or hypertriglyceridemia, nor have cardiovascular defects been reported to date.
BANF1