Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.

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.

• Authors: Graeme R Frank, Joyce Fox, Ninfa Candela, Zorica Jovanovic, Elena Bochukova, Jeremiah Levine, Peter R Papenhausen, Stephen O'Rahilly, I Sadaf Farooqi
• Journal: Molecular genetics and metabolism (Mol Genet Metab) 2013 Sep-Oct Vol. 110 Issue 1-2 Pg. 191-4 ISSN: 1096-7206 [Electronic] United States
• PMID: 23800642 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Chemical References

• Proprotein Convertases
• Proprotein Convertase 1

Topics

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