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Prenatal diagnosis of chronic intestinal pseudo‐obstruction and paternal somatic mosaicism for the ACTG 2 pathogenic variant
Author(s) -
Milunsky Aubrey,
Lazier Joanna,
Baldwin Clinton,
Young Carmen,
Primack Daniel,
Milunsky Jeff M.
Publication year - 2017
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5171
Subject(s) - phenotype , prenatal diagnosis , genetics , biology , gene , asymptomatic , mutation , intestinal pseudo obstruction , fetus , medicine , pregnancy , pathology
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.