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Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy
Eberhard Passarge1,2, Peter N Robinson3, Luitgard M Graul-Neumann4
1Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
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.
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