Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()

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 encompa...

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Autores principales: Frank, Graeme R., Fox, Joyce, Candela, Ninfa, Jovanovic, Zorica, Bochukova, Elena, Levine, Jeremiah, Papenhausen, Peter R., O'Rahilly, Stephen, Farooqi, I. Sadaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2013
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759845/
https://www.ncbi.nlm.nih.gov/pubmed/23800642
http://dx.doi.org/10.1016/j.ymgme.2013.04.005
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author Frank, Graeme R.
Fox, Joyce
Candela, Ninfa
Jovanovic, Zorica
Bochukova, Elena
Levine, Jeremiah
Papenhausen, Peter R.
O'Rahilly, Stephen
Farooqi, I. Sadaf
author_facet Frank, Graeme R.
Fox, Joyce
Candela, Ninfa
Jovanovic, Zorica
Bochukova, Elena
Levine, Jeremiah
Papenhausen, Peter R.
O'Rahilly, Stephen
Farooqi, I. Sadaf
author_sort Frank, Graeme R.
collection PubMed
description 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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spelling pubmed-37598452013-09-03 Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency() Frank, Graeme R. Fox, Joyce Candela, Ninfa Jovanovic, Zorica Bochukova, Elena Levine, Jeremiah Papenhausen, Peter R. O'Rahilly, Stephen Farooqi, I. Sadaf Mol Genet Metab Brief Communication 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. Academic Press 2013-09 /pmc/articles/PMC3759845/ /pubmed/23800642 http://dx.doi.org/10.1016/j.ymgme.2013.04.005 Text en © 2013 The Authors https://creativecommons.org/licenses/by-nc-sa/3.0/ Open Access under CC BY-NC-SA 3.0 (https://creativecommons.org/licenses/by-nc-sa/3.0/) license
spellingShingle Brief Communication
Frank, Graeme R.
Fox, Joyce
Candela, Ninfa
Jovanovic, Zorica
Bochukova, Elena
Levine, Jeremiah
Papenhausen, Peter R.
O'Rahilly, Stephen
Farooqi, I. Sadaf
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
title Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
title_full Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
title_fullStr Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
title_full_unstemmed Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
title_short Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency()
title_sort severe obesity and diabetes insipidus in a patient with pcsk1 deficiency()
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759845/
https://www.ncbi.nlm.nih.gov/pubmed/23800642
http://dx.doi.org/10.1016/j.ymgme.2013.04.005
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