Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344121 | Molecular Genetics and Metabolism | 2013 | 4 Pages |
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
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Graeme R. Frank, Joyce Fox, Ninfa Candela, Zorica Jovanovic, Elena Bochukova, Jeremiah Levine, Peter R. Papenhausen, Stephen O'Rahilly, I. Sadaf Farooqi,