Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin gene

Intern Med. 2003 Jul;42(7):599-604. doi: 10.2169/internalmedicine.42.599.

Abstract

We herein report a case of aceruloplasminemia in a 27-year-old man who had a 10-year history of diabetes mellitus. The patient developed a convulsion, most likely as a result of hypoglycemia. Unexpectedly, this episode left him in a prolonged state of unconsciousness, which necessitated neurological testing and imaging. Brain MRI showed bilateral hypo-intensities in the basal ganglia and thalamus. Molecular analysis revealed a novel splicing mutation in the ceruloplasmin (CP) gene that would result in the skipping of exon 3 during transcription. This case suggests that diabetes associated with aceruloplasminemia can become manifest in the teens.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alternative Splicing
  • Ceruloplasmin / deficiency*
  • Ceruloplasmin / genetics*
  • Coma / etiology
  • Diabetes Mellitus, Type 1 / blood
  • Diabetes Mellitus, Type 1 / complications*
  • Exons / genetics*
  • Humans
  • Iron Metabolism Disorders / complications*
  • Iron Metabolism Disorders / genetics
  • Male
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Seizures / etiology
  • Sequence Analysis, DNA
  • Transcription, Genetic

Substances

  • Ceruloplasmin