Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

Mol Genet Metab. 2013 Sep-Oct;110(1-2):191-4. doi: 10.1016/j.ymgme.2013.04.005. Epub 2013 Apr 17.

Abstract

Non-synonymous mutations affecting both alleles of PCSK1 (proprotein convertase 1/3) are associated with obesity and impaired prohormone processing. We report a proband who was compound heterozygous for a maternally inherited frameshift mutation and a paternally inherited 474kb deletion that encompasses PCSK1, representing a novel genetic mechanism underlying this phenotype. Although pro-vasopressin is not a known physiological substrate of PCSK1, the development of central diabetes insipidus in this proband suggests that PCSK1 deficiency can be associated with impaired osmoregulation.

Keywords: Obesity; Prohormones.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Child, Preschool
  • Diabetes Insipidus / complications
  • Diabetes Insipidus / genetics*
  • Diabetes Insipidus / pathology
  • Endocrine System Diseases / complications
  • Endocrine System Diseases / genetics*
  • Endocrine System Diseases / pathology
  • Heterozygote
  • Humans
  • Infant
  • Mutation
  • Obesity / complications
  • Obesity / genetics*
  • Obesity / pathology
  • Obesity, Morbid / complications
  • Obesity, Morbid / genetics*
  • Obesity, Morbid / pathology
  • Osmoregulation / genetics
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Proprotein Convertase 1 / deficiency*
  • Proprotein Convertase 1 / genetics
  • Proprotein Convertases / genetics*

Substances

  • Proprotein Convertases
  • Proprotein Convertase 1

Supplementary concepts

  • Proprotein Convertase 1 3 Deficiency