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Mol Genet Metab. 2013 Sep-Oct;110(1-2):191-4. doi: 10.1016/j.ymgme.2013.04.005. Epub 2013 Apr 17.

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

Author information

1
Cohen 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.

KEYWORDS:

Obesity; Prohormones

PMID:
23800642
PMCID:
PMC3759845
DOI:
10.1016/j.ymgme.2013.04.005
[Indexed for MEDLINE]
Free PMC Article
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