Story perspectives

New Genetic Link Discovered in Congenital Diarrhea Cases

1/23/2026

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Summary

Story summary

Researchers document congenital diarrhea/enteropathy linked to the PERCC1 gene, identifying a new stop-gain variant c.188C>G (p.Ser63*) by whole-exome sequencing.
A literature review reports 16 additional cases, including 13 with large biallelic deletions and three with homozygous stop-gain c.390C>G (p.Tyr130*).
Diarrhea onset occurs around 9.5 days, and chronic diarrhea often causes growth failure requiring parenteral nutrition.
Parenteral nutrition has been discontinued in six patients by an average age of 8 years.

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Story summary

Researchers document congenital diarrhea/enteropathy linked to the PERCC1 gene, identifying a new stop-gain variant c.188C>G (p.Ser63*) by whole-exome sequencing.
A literature review reports 16 additional cases, including 13 with large biallelic deletions and three with homozygous stop-gain c.390C>G (p.Tyr130*).
Diarrhea onset occurs around 9.5 days, and chronic diarrhea often causes growth failure requiring parenteral nutrition.
Parenteral nutrition has been discontinued in six patients by an average age of 8 years.