title: Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
abstract: We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and clinical features of lipodystrophy was present in all individuals. We suggest that this previously unknown genotype/phenotype relationship constitutes a new fibrillinopathy for which the name marfanoid-progeroid-lipodystrophy syndrome would be appropriate.
authors: Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.|Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.
authors: Eberhard
authors: E
authors: Passarge
authors: Institut für Medizinische Genetik und Humangenetik Charité Berlin, Berlin, Germany.
authors: Peter N
authors: 0000-0002-0736-9199
authors: PN
authors: Robinson
authors: Ambulantes Gesundheitszentrum der Charité Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany.
authors: Luitgard M
authors: LM
authors: Graul-Neumann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics*; D058685:Genetic Pleiotropy; D006801:Humans; D008060:Lipodystrophy / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines