Work

P828: Expanding the prenatal phenotype of MYRF-related cardiac-urogenital syndrome

Year: 2025

Type: article

Abstract: Cardiac-urogenital syndrome (CUGS) is an emerging, multisystemic disorder characterized by congenital heart defects, urogenital, and ocular abnormalities attributed to heterozygous MYRF variants. Diaphragmatic anomalies, primary pulmonary hypoplasia, intestinal malrotation, and intellectual/developmental disabilities are also associated. To date, over 50 individuals with MYRF-CUGS have been identified, of which the prenatal presentation was detailed in a limited number of cases. Here we describe the features of 5 fetuses with MYRF-CUGS, further delineating the prenatal spectrum of disease.

Source: Genetics in Medicine Open