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Article

Congenital diarrhea/enteropathy due to a novel biallelic PERCC1 variant - a case-based review and variant analysis.

Journal of human genetics - 1 Aug 2026

Banday Aaqib Zaffar, Malik Ishaq, Kaur Anit, Sadanand Rohit, Thoker Wasim Yousuf, Jan Usman Muzafar, Kambay Altaf Hussain, Bhat Abdus Sami

Abstract excerpt

Congenital diarrhea/enteropathy due to inherited biallelic defects in the newly discovered gene PERCC1 has been reported in only a few patients thus far. We utilized whole-exome sequencing (WES) to identify a novel PERCC1 stop-gain variant (c.188C>G, p.Ser63*). Literature review identified 16 additional patients - 13 with large biallelic deletions involving the PERCC1 gene and three with a homozygous...

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Identifiers

PMID: 41577959
DOI: 10.1038/s10038-026-01455-0

Genes

PERCC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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