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Percc1-Associated Congenital Diarrhea and Enteropathy: Description of a Novel Variant

Bilge S Akkelle1, Emine Celik1, Esra Dirimtekin2

  • 1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Marmara University School of Medicine, Istanbul, Turkey.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|May 31, 2026
PubMed

Insights

Congenital diarrhea and enteropathies (CoDEs) can stem from genetic defects. A novel PERCC1 gene variant caused CoDE in an infant, presenting unique enteroendocrine cell and pancreatic issues, expanding the known PERCC1-associated CoDE spectrum.

Area of Science:

  • Genetics
  • Gastroenterology
  • Developmental Biology

Background:

  • Congenital diarrhea and enteropathies (CoDEs) are rare, debilitating conditions caused by monogenic defects.
  • The PERCC1 gene, crucial for enteroendocrine cell development, has been recently implicated in CoDEs.

Purpose of the Study:

  • To report the clinical, laboratory, and histopathologic findings of CoDE in an infant with a novel PERCC1 gene variant.
  • To characterize the unique features associated with this PERCC1 variant.

Main Methods:

  • Case report of an infant diagnosed with CoDE at 2 months postnatally.
  • Genetic analysis identifying a novel homozygous variant (c.337 del) in the PERCC1 gene.
  • Clinical, laboratory, and histopathologic evaluation.

Main Results:

  • The infant presented with CoDE due to a novel homozygous PERCC1 variant (c.337 del).
  • Unique findings included abnormal location/distribution of enteroendocrine cells and exocrine pancreatic insufficiency.
  • These features expand the known clinical spectrum of PERCC1-associated CoDE.

Conclusions:

  • The novel PERCC1 variant is associated with a distinct CoDE phenotype.
  • Abnormal enteroendocrine cell distribution and exocrine pancreatic insufficiency are key features.
  • This case broadens the understanding of PERCC1-related congenital enteropathies.

Keywords:
GIendocrineimmunohistochemistrymicroscopyneonatalpediatric

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