Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the <scp>ACTG</scp>2 pathogenic variant

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<jats:p>What's already known about this topic? <jats:list list-type="bullet"> <jats:list-item><jats:p>Pathogenic variants in the <jats:italic>ACTG2</jats:italic> gene cause highly variable autosomal dominant phenotypes from intestinal pseudo‐obstruction to megacystis to constipation. Pathogenic variants in rarer recessive genes (<jats:italic>MYH11</jats:italic>, <jats:italic>MYLK</jats:italic>, <jats:italic>RAD21</jats:italic>, and <jats:italic>LMOD1</jats:italic>) cause similar phenotypes.</jats:p></jats:list-item> </jats:list></jats:p><jats:p>What does this study add? <jats:list list-type="bullet"> <jats:list-item><jats:p>Autosomal dominant pathogenic variants in the <jats:italic>ACTG2</jats:italic> gene may originate from an asymptomatic parent who has somatic mosaicism for this gene mutation, resulting in megacystis‐microcolon‐hypoperistalsis syndrome. Prenatal diagnosis can be offered when fetal bladder prominence is observed.</jats:p></jats:list-item> </jats:list></jats:p>

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