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.
Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.
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