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.

SUBMITTER: Passarge E 

PROVIDER: S-EPMC4989216 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature