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Article

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

Clinical genetics - 1 Mar 2021

Matera Ivana, Bordo Domenico, Di Duca Marco, Lerone Margherita, Santamaria Giuseppe, Pongiglione Marta, Lezo Antonella, Diamanti Antonella, Spagnuolo Maria Immacolata, Pini Prato Alessio, Alberti Daniele, Mattioli Girolamo, Gandullia Paolo, Ceccherini Isabella

Abstract excerpt

Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal pseudo-obstruction, either congenital or late-onset visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Here we report about ten pediatric and one adult patients, from nine families, carrying ACTG2 variants: four show novel still...

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PMID: 33294969
DOI: 10.1111/cge.13895

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