A De Novo Variant in Calponin2 Causes Intestinal Pseudo-obstruction: Evidence from Patient and Mouse Model

jpedsurg.org

Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal motility disorder with considerable genetic heterogeneity. Nevertheless, genetic etiology in a substantial proportion of the patients remains unknown. This study aimed to identify the underlying genetic cause in a child with unexplained PIPO and to establish a novel disease gene associated with this condition.

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Article · Mar 2026 · 1 min read

In brief

This study identifies a novel de novo variant in the Calponin2 gene as a cause of pediatric intestinal pseudo-obstruction (PIPO), a severe gastrointestinal motility disorder. Using patient data and mouse models, researchers establish Calponin2 as a new disease gene, advancing understanding of PIPO's genetic heterogeneity and potentially enabling better diagnosis for affected children.

De novo CNN2 variant identified as novel genetic cause of pediatric intestinal pseudo-obstruction through patient sequencing and mouse modeling
Calponin2 dysfunction impairs smooth muscle contractility in the gastrointestinal tract, establishing CNN2 as a PIPO disease gene
Genetic testing for CNN2 variants should be considered in unexplained PIPO cases to improve diagnostic yield and genetic counseling
Mouse models with CNN2 deficiency recapitulate human PIPO phenotype, validating pathogenic mechanism and enabling therapeutic research
This discovery expands the genetic heterogeneity landscape of PIPO and may guide precision medicine approaches for affected patients

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