Research into Kathleen Folbigg murder case indicates genetic disease at play



Credit: CC0 Public Domain

Researchers have found a new gene mutation that leads to sudden infant death, which could unlock the case of Kathleen Folbigg—who is over halfway through a 30-year prison sentence for the murder and manslaughter of her four children.
Ms Folbigg was convicted by a jury in 2003. She has always maintained her innocence.
New research, to be published in EP Europace, shows two of Ms Folbigg’s daughters—Sarah and Laura—both carried a previously undiscovered variant in a maternally-inherited gene that is likely to cause sudden unexpected death in infancy and childhood.
Professor Carola Vinuesa and Dr. Todor Arsov, from The Australian National University (ANU), first found the novel variant in the gene CALM2, by genome sequencing Ms Folbigg in 2018.
The “G114R” variant in the CALM2 gene, which is predicted to cause lethal cardiac arrhythmias, was found in both Ms Folbigg and her two daughters. According to the researchers, this variant could raise serious doubts about Ms Folbigg’s conviction.
“We have found the CALM2 variant was the likely cause for the deaths of Kathleen Folbigg’s two children, Sarah and Laura,” Professor Vinuesa said.
The researchers say CALM genes are associated with a range of life-threatening cardiac arrhythmias, complications with the heartbeat, and Ms Folbigg was a mildly symptomatic carrier. Over 13 percent of individuals with pathogenic CALM mutations remain healthy.
The paper which is authored by world-class experts—including leading cardiologist and expert in inherited cardiac arrhythmias, Professor Peter Schwartz—states: “A fatal arrhythmic event in …