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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We thank Mary F Passarge for critical reading of the manuscript and helpful suggestions.
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Passarge, E., Robinson, P. & Graul-Neumann, L. Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet 24, 1244–1247 (2016). https://doi.org/10.1038/ejhg.2016.6
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DOI: https://doi.org/10.1038/ejhg.2016.6
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