Nestor-Guillermo progeria syndrome

Definition:

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.

References:

[1]. Heather G Fisher, et al. An additional case of Néstor-Guillermo progeria syndrome diagnosed in early childhood. Am J Med Genet A. 2020 Oct;182(10):2399-2402. [Content Brief]

[2]. Nicolas Paquet, et al. Néstor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation. BMC Mol Biol. 2014 Dec 12;15:27. [Content Brief]

[3]. Rubén Cabanillas, et al. Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet A. 2011 Nov;155A(11):2617-25. [Content Brief]

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