Journal
PRENATAL DIAGNOSIS
Volume 37, Issue 12, Pages 1254-1256Publisher
WILEY
DOI: 10.1002/pd.5171
Keywords
-
Categories
Ask authors/readers for more resources
What's already known about this topic? Pathogenic variants in the ACTG2 gene cause highly variable autosomal dominant phenotypes from intestinal pseudo-obstruction to megacystis to constipation. Pathogenic variants in rarer recessive genes (MYH11, MYLK, RAD21, and LMOD1) cause similar phenotypes. What does this study add? Autosomal dominant pathogenic variants in the ACTG2 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available