title: Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
abstract: Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints. However, these NGPS patients have a distinctive phenotype. In their early adulthood (32 and 24 years of age), they have no signs of cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia. In contrast, they suffer profound skeletal abnormalities that affect their quality of life. The observed differences are of utmost importance to patients and their families and palliation of osseous manifestations is a priority, given their relatively long lifespan. We define NGPS as a chronic progeria because of its slow clinical course and relatively long survival, despite its early onset. Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself.
authors.affiliation: Instituto de Medicina Oncológica y Molecular de Asturias, Asturias, Spain.
authors.forename: Rubén
authors.initials: R
authors.lastname: Cabanillas
authors.forename: Juan
authors.initials: J
authors.lastname: Cadiñanos
authors.forename: José A F
authors.initials: JA
authors.lastname: Villameytide
authors.forename: Mercedes
authors.initials: M
authors.lastname: Pérez
authors.forename: Jesús
authors.initials: J
authors.lastname: Longo
authors.forename: José M
authors.initials: JM
authors.lastname: Richard
authors.forename: Rebeca
authors.initials: R
authors.lastname: Alvarez
authors.forename: Noelia S
authors.initials: NS
authors.lastname: Durán
authors.forename: Rafael
authors.initials: R
authors.lastname: Illán
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: González
authors.forename: Carlos
authors.initials: C
authors.lastname: López-Otín
mesh_terms: D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005820:Genetic Testing; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: C501959:BANF1 protein, human; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins