This website provides information on patients with mutations in the BANF1 gene, including clinical data, molecular data, management and research options.

Néstor-Guillermo Progeria Syndrome is caused by the mutation c.34G>A (p.Ala12Thr) in the BANF1 gene. It 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. At this level, patients present with an undeveloped midface, hypoplastic or absent clavicles, acro-osteolysis, osteoporosis and thorax deformity. Contrary to classical progeria, none of NGPS patients identified so far have shown sign of diabetes, hypertriglyceridemia or cardiovascular defects.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BANF1 gene causing NGPS.

Clea Bárcena Fernández, PhD, Senior researcher, Universidad de Oviedo, Oviedo, Spain, barcenaclea@uniovi.es

Carlos López-Otín, Professor, Universidad Nebrija, Madrid, Spain, lavidaencuatroletras@gmail.com

José M. P. Freije, Professor, Universidad de Oviedo, Oviedo, Spain, jmpf@uniovi.es