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Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency
Graeme R Frank1, Joyce Fox, Ninfa Candela
1Cohen Children's Medical Center, Division of Pediatric Endocrinology, New Hyde Park, NY 11042, USA.
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.
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