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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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De Novo GUCY2C and PRR12 Mutations in a Patient With Chronic Diarrhea, Small Bowel Obstructions, and Developmental

Feruza Abraamyan1, Luke Pecha2, Valentina Medici2

  • 1Department of Internal Medicine, Sutter Roseville Medical Center, Roseville, CA.

ACG Case Reports Journal
|December 8, 2025
PubMed

Insights

A novel GUCY2C mutation causes congenital diarrhea and bowel obstructions. A PRR12 mutation explains developmental delay, resolving a long-standing diagnostic mystery and enabling personalized patient care.

Area of Science:

  • Genetics
  • Gastroenterology
  • Developmental Biology

Background:

  • Congenital secretory diarrhea and recurrent small bowel obstructions present significant diagnostic challenges.
  • Neurodevelopmental delay can be associated with complex genetic disorders.

Keywords:
GUCY2C mutationPRR12 mutationcongenital secretory diarrheagenetic testingsmall bowel obstruction

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