[HTML][HTML] Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

GR Frank, J Fox, N Candela, Z Jovanovic… - Molecular genetics and …, 2013 - Elsevier
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 …