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Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.

Genes - 10 May 2021

Aerts Laetitia, Terry Nathalie A, Sainath Nina N, Torres Clarivet, Martín Martín G, Ramos-Molina Bruno, Creemers John W

Abstract excerpt

Proprotein convertase 1/3 (PC1/3), encoded by the PCSK1 gene, is expressed in neuronal and (entero)endocrine cell types, where it cleaves and hence activates a number of protein precursors that play a key role in energy homeostasis. Loss-of-function mutations in PCSK1 cause a recessive complex endocrinopathy characterized by malabsorptive diarrhea and early-onset obesity. Despite the fact that neonatal...

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PMID: 34068683
DOI: 10.3390/genes12050710
PMCID: PMC8151971

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