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Article

A novel mutation of PCSK1 responsible for PC1/3 deficiency in two siblings.

Clinics and research in hepatology and gastroenterology - 1 Nov 2021

Duclaux-Loras Rémi, Bourgeois Patrice, Lavrut Pierre-Marie, Charbit-Henrion Fabienne, Bonniaud-Blot Pauline, Maudinas Raphael, Bournez Marie, Faure Mathias, Cerf-Bensussan Nadine, Lachaux Alain, Peretti Noel, Fabre Alexandre

Abstract excerpt

Proprotein convertase 1 (PCSK1, PC1/3) deficiency is an uncommon cause of neonatal malabsorptive diarrhoea associated with endocrinopathies that are due to the disrupted processing of a large number of prohormones, including proinsulin. To date, only 26 cases have been reported. Herein, we describe two siblings with typical features including severe congenital diarrhoea, central diabetes insipidus, growth hormone...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33662777
DOI: 10.1016/j.clinre.2021.101640

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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