Variants in MYRF identified in a new syndrome with congenital diaphragmatic syndrome, congenital heart disease and genitourinary abnormalities
PLOS Genetics recently published a new study identifying 4 unrelated individuals with damaging de novo variants in MYRF, encoding a membrane associated transcriptional factor highly expressed in developing diaphragm. Eight additional individuals were identified from other genetic studies from the authors or from the literature. Common phenotypes of these variants included congenital diaphragmatic hernia, congenital heart disease, and genitourinary abnormalities. The authors used this study to highlight the pleiotropic effect of MYRF mutations and consider their effects as a new syndrome besides congenital diaphragmatic hernia.
PLoS Genet. 2018 Dec 10;14(12):e1007822