Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. Recently, a mutation in the BANF1 gene was identified as the genetic basis of NGPS. This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2B Syndromes with premature ageing appearance as a major feature
H01883 Nestor-Guillermo progeria syndrome
