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. 2025 Jan;107(1):115-116.
doi: 10.1111/cge.14638. Epub 2024 Oct 29.

PERCC1 -Related Congenital Enteropathy

Lena S Kerle  1 , Pia Karlsland Åkeson  2 , Thomas Müller  1 , Andreas R Janecke  1   3
Affiliations

PERCC1 -Related Congenital Enteropathy

Lena S Kerle et al. Clin Genet. 2025 Jan.

Abstract

A total of 14 patients are known with the nonsyndromic enteropathy caused by biallelic deletions (∆L and ∆S) or truncating mutations affecting PERCC1 or its adjacent regulatory region. PERCC1 is so far in gnomAD only annotated in the GRCh38 reference sequence. Parenteral nutrition is required throughout childhood and often in adolescence.

Keywords: CODEs; PERCC1; intestinal epithelial disorder; intractable diarrhea.

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Conflict of interest statement

The authors declare no Conflicts of Interest.

Figures

FIGURE 1
FIGURE 1
The PERCC1 locus, a novel family, and a compilation of all 14 reported patients with PERCC1‐related CODE. (A) The PERCC1 locus and the three reported pathogenic variants are shown with GRCh38 coordinates, and patient identifiers are provided. (B). Simplified pedigree of a novel family with three patients homozygous for ∆S. (C) Characteristics of 14 reported patients.
See this image and copyright information in PMC

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