Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC

Oscar Rubio-Cabezas, Vishwajeet Puri, Incoronata Murano, Vladimir Saudek, Robert K. Semple, Satya Dash, Caroline S S Hyden, William Bottomley, Corinne Vigouroux, Jocelyne Magré, Philippa Raymond-Barker, Peter R. Murgatroyd, Anil Chawla, Jeremy N. Skepper, V. Krishna Chatterjee, Sara Suliman, LD Screening Consortium, Ann Marie Patch, Anil K. Agarwal, Abhimanyu GargInês Barroso, Saverio Cinti, Michael P. Czech, Jesús Argente, Stephen O'Rahilly, David B. Savage

Research output: Contribution to journalArticlepeer-review

211 Scopus citations


Lipodystrophic syndromes are characterized by adipose tissue deficiency. Although rare, they are of considerable interest as they, like obesity, typically lead to ectopic lipid accumulation, dyslipidaemia and insulin resistant diabetes. In this paper we describe a female patient with partial lipodystrophy (affecting limb, femorogluteal and subcutaneous abdominal fat), white adipocytes with multiloculated lipid droplets and insulin-resistant diabetes, who was found to be homozygous for a premature truncation mutation in the lipid droplet protein cell death-inducing Dffa- like effector C (CIDEC) (E186X). The truncation disrupts the highly conserved CIDE-C domain and the mutant protein is mistargeted and fails to increase the lipid droplet size in transfected cells. In mice, Cidec deficiency also reduces fat mass and induces the formation of white adipocytes with multilocular lipid droplets, but in contrast to our patient, Cidec null mice are protected against diet-induced obesity and insulin resistance. In addition to describing a novel autosomal recessive form of familial partial lipodystrophy, these observations also suggest that CIDEC is required for unilocular lipid droplet formation and optimal energy storage in human fat. 2009 EMBO Molecular Medicine.

Original languageEnglish (US)
Pages (from-to)280-287
Number of pages8
JournalEMBO Molecular Medicine
Issue number5
StatePublished - Aug 2009


  • CIDEC (Fsp27)
  • Insulin resistance
  • Lipid droplet
  • Lipodystrophy

ASJC Scopus subject areas

  • Molecular Medicine


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