A De Novo Variant in Calponin2 Causes Intestinal Pseudo-obstruction: Evidence from Patient and Mouse Model
Topic overview
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.
Key takeaways
- 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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How to cite: GlobalCastMD. A De Novo Variant in Calponin2 Causes Intestinal Pseudo-obstruction: Evidence from Patient and Mouse Model. GlobalCastMD Medical Library. 2026-03-05. https://library.globalcastmd.com/article/11636
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