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


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Authors

Frank, Graeme R 
Fox, Joyce 
Candela, Ninfa 
Jovanovic, Zorica 
Bochukova, Elena 

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.

Description

Keywords

Obesity, Prohormones, Alleles, Child, Preschool, Diabetes Insipidus, Endocrine System Diseases, Heterozygote, Humans, Infant, Mutation, Obesity, Obesity, Morbid, Osmoregulation, Phenotype, Polymorphism, Single Nucleotide, Proprotein Convertase 1, Proprotein Convertases

Journal Title

Mol Genet Metab

Conference Name

Journal ISSN

1096-7192
1096-7206

Volume Title

110

Publisher

Elsevier BV
Sponsorship
Medical Research Council (G0900554)
Medical Research Council (G9824984)
Medical Research Council (MC_UU_12012/1)
Medical Research Council (G0600717)
Wellcome Trust (098497/Z/12/Z)
ISF and SOR were supported by the Wellcome Trust, the MRC Centre for Obesity and Related Disorders and the UK NIHR Cambridge Biomedical Research Centre.