MoGen researchers help identify a new genetic cause of congenital heart disease
Research Highlights
From left: Study authors Ian Scott, Esra Erkut, Rebekah Jobling and Cherith Somerville
By
MoGen News
A research team from the Department of Molecular Genetics at SickKids has found that changes in two genes, EIF3A and EIF3B, can cause a newly recognized condition characterized by congenital heart disease and developmental differences.
The team studied 18 children and adults who had rare mutations in one of these genes. Most had heart defects, and some also had learning differences, speech delays and facial features that were shared across the group. These findings show that changes in these genes are a likely cause of the condition and will help doctors provide clearer answers and guidance to families.
Several members of the MoGen community contributed to the discovery. Dr. Ian Scott, Professor in the Department of Molecular Genetics, led the work that tested how the gene changes affect heart development. MoGen graduate student Esra Erkut used zebrafish models to show that the mutations lead to smaller hearts and reduced heart function. Cherith Somerville, a graduate of the Medical Genetics program, helped interpret the clinical cases.
This study shows how research in molecular genetics can help families understand the cause of a child’s condition and improve future genetic testing and care.
