What question did this study set out to answer?

To expand the mutational spectrum of PCSK1 deficiency and highlight the role of genetic diagnosis in treatment.

December 12, 2025Open Access

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

Key Points

To expand the mutational spectrum of PCSK1 deficiency and highlight the role of genetic diagnosis in treatment.
Analyzed genetic data of an 18-day-old male neonate with severe diarrhea.
Identified a homozygous splicing mutation in the PCSK1 gene.
Utilized next-generation sequencing for accurate diagnosis.
Novel mutation in PCSK1 was identified, associated with severe symptoms.
Timely intervention improved nutritional management and endocrine assessment.
Expanded understanding of the genotypic spectrum of PCSK1 deficiency.

Abstract

Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 ( PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic acidosis, and failure to thrive. Genetic analysis identified a novel homozygous c.709+1 G > A splicing mutation in PCSK1 , predicted to disrupt protein function. Rapid genetic diagnosis enabled timely endocrine assessment and guided nutritional management, minimizing invasive procedures. Expanding the PCSK1 mutational spectrum, this case highlights the pivotal role of next‐generation sequencing in neonates with refractory diarrhea and suggestive clinical history, facilitating early intervention and improved outcomes.

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