Unraveling Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls.

This study details the clinical and cellular phenotypes associated with two missense heterozygous mutations in , c.1745G > T p.(Arg582Leu), and c.

A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.

ZMPSTE24 encodes the only metalloprotease, which transforms prelamin into mature lamin A. Up to now, mutations in ZMPSTE24 have been linked to Restrictive Dermopathy (RD), Progeria or Mandibulo-Acral Dysplasia (MAD). We report here the phenotype of a patient referred for severe metabolic syndrome and cardiomyopathy, carrying a mutation in ZMPSTE24.