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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.

European Journal of Human Genetics : EJHG
|February 11, 2016
PubMed

Insights

Researchers identified a new genetic disorder, marfanoid-progeroid-lipodystrophy syndrome, linked to FBN1 gene mutations. This condition presents with Marfan syndrome features, a progeroid appearance, and lipodystrophy.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Genetics

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue, primarily due to mutations in the FBN1 gene.
  • Previous reports have documented various FBN1 gene mutations and their associated phenotypes.
  • Lipodystrophy and progeroid facial appearance are distinct conditions that can occur independently.

Purpose of the Study:

  • To investigate a potential novel genotype/phenotype relationship associated with FBN1 gene mutations.
  • To characterize a distinct clinical syndrome observed in patients with specific FBN1 mutations.
  • To propose a new classification for this newly identified fibrillinopathy.

Main Methods:

  • Literature review of six previous reports (2000-2014) concerning seven unrelated patients.
  • Analysis of genetic data focusing on mutations within the FBN1 gene.
  • Clinical phenotyping of affected individuals, noting shared characteristics.

Main Results:

  • All seven patients shared mutations in exon 64 of the FBN1 gene.
  • A consistent phenotype was observed, including partial Marfan syndrome features.
  • Patients also exhibited a progeroid facial appearance and clinical signs of lipodystrophy.

Conclusions:

  • The identified genotype/phenotype correlation suggests a new fibrillinopathy.
  • The distinct clinical presentation warrants recognition as a unique syndrome.
  • The proposed name, marfanoid-progeroid-lipodystrophy syndrome, accurately reflects the observed characteristics.

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