Prenatal diagnosis of a novel biallelic ARFGEF1-related disorder due to uniparental isodisomy: A case report
Take home points:
ARFGEF1 is associated with an autosomal dominant neurodevelopmental disorder; this case report documents the first homozygous pathogenic ARFGEF1 case with a severe, prenatal presentation.
This highlights the potential for prenatal exome to identify ultra rare, severe conditions which may not be ascertained in a postnatal cohort.
Authors: Julia A. Coltri; Samantha L. Wiegand; Ginger J. Tsai; Bethany Buckley
Collaborators: The Ohio State University Wexner College of Medicine; Wright State University