Journal
MOLECULAR GENETICS AND METABOLISM
Volume 110, Issue 1-2, Pages 191-194Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2013.04.005
Keywords
Obesity; Prohormones
Funding
- Wellcome Trust
- MRC Centre for Obesity and Related Disorders
- UK NIHR Cambridge Biomedical Research Centre
- Medical Research Council [MC_UU_12012/1, G0600717, MC_UU_12012/5/B, G0600717B, G9824984, G0900554] Funding Source: researchfish
- MRC [MC_UU_12012/1, G0900554, G9824984, G0600717] Funding Source: UKRI
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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. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved.
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