BANF1 GENE ANALYSIS
Nestor-Guillermo Progeria Syndrome (NGPS) is an atypical form of progeria characterised by severe osteolysis (of mandible, clavicles, ribs, distal phalanges and radii), short stature, scoliosis, micrognathia, propotosis, prominent subcutaneous venous patterning, generalised lipoatrophy and sparse to absent scalp hair from second decade of life. In contrast to other forms of progeria these patients do not have cardiac ischemia, atherosclerosis, insulin resistance, diabetes mellitus or hypertriglyceridemia. The lifespan is also longer than other forms of progeria with patients living into the third decade.
NGPS is an autosomal recessive disorder caused by homozygous varias in the BANF1 gene (Puente et al. 2011 Am J Hum Genet 88, 650-656).
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.