P828: Expanding the prenatal phenotype of MYRF-related cardiac-urogenital syndrome
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.
Authors
- Shelly Soni (ORCID: https://orcid.org/0000-0002-3019-0031)
- Nahla Khalek (ORCID: https://orcid.org/0000-0002-1510-7850)
- Serena Wu
- Gustavo Eisenberg
- Beverly G. Coleman (ORCID: https://orcid.org/0000-0002-1600-4626)
- Natalie Burrill
- Lisa Pilchman
- Kathleen Gianforcaro
- Haley M. Crane (ORCID: https://orcid.org/0009-0004-2645-6767)
- Juliana S. Gebb (ORCID: https://orcid.org/0000-0001-5829-1961)
- Julie S. Moldenhauer
- Jack Rychik
- M. Huynh
- Christina Paidas Teefey
- Renee Wright
Institutions
- Children's Hospital of Philadelphia (US)
- Richard Wolf (Germany) (DE)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103197
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00