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Article

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Clinical genetics - 1 Jul 2025

Huber Leah M, Subaşıoğlu Aslı, Garczarczyk-Asim Dorota, Valovka Taras, Müller Thomas, Adam Rüdiger, Janecke Andreas R

Abstract excerpt

Proprotein convertase 1/3 (PC1/3), encoded by PCSK1, is expressed in neuronal and endocrine cell types, where it activates a number of protein precursors that play roles in energy homeostasis. Biallelic PCSK1 loss-of-function mutations cause a polyendocrinopathy; a total of 34 patients were reported. An infant with congenital malabsorptive diarrhea of all carbohydrates underwent exome sequencing (ES), with...

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PMID: 39891480
DOI: 10.1111/cge.14717
PMCID: PMC12136867

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PCSK1

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