Nestor-Guillermo progeria syndrome

Nestor-Guillermo progeria syndrome (NGPS) is an extremely rare autosomal recessive progeroid disorder caused by biallelic mutations in the BANF1 gene (also known as BAF), which encodes barrier-to-autointegration factor 1, a protein involved in nuclear envelope integrity and chromatin organization. The syndrome was first described in 2011 and is named after the two patients in whom it was initially identified. NGPS is classified among the laminopathy-related progeroid syndromes, sharing some features with Hutchinson-Gilford progeria syndrome (HGPS), but with notable clinical differences. NGPS primarily affects the skeletal system, skin, and connective tissues. Key clinical features include severe osteolysis (progressive bone loss), particularly affecting the clavicles, ribs, and mandible, along with marked osteoporosis, joint stiffness, and skeletal deformities. Patients exhibit a progeroid (aged) appearance with thin skin, loss of subcutaneous fat, prominent scalp veins, and micrognathia (small jaw). Unlike Hutchinson-Gilford progeria, patients with NGPS do not typically develop early atherosclerosis or cardiovascular disease, and lifespan may extend beyond the second decade of life. Growth failure and short stature are prominent features, and patients may also exhibit dental abnormalities and a characteristic facial appearance with prominent eyes. There is currently no cure or disease-specific treatment for Nestor-Guillermo progeria syndrome. Management is supportive and symptomatic, focusing on orthopedic care for skeletal complications, pain management, physical therapy, and monitoring for potential complications. Given the extreme rarity of this condition, with only a handful of cases reported worldwide, clinical knowledge continues to evolve as additional patients are identified and studied.

Common questions about Nestor-Guillermo progeria syndrome