Defining Calmodulin Mutations

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Three calmodulin genes are very rare in population databases of all the highly conserved genes in evolution. declaring a variant pathogenic now requires a fairly high bar of proof, says Watkins. In large population databases, a small number of seemingly healthy people have calmodulin mutations - albeit in different locations to known pathogenic variants. It is possible for Folbig to live with a pathogenic mutation, while her daughters might have died from it.

Kathleen Folbigg has spent nearly 20 years in prison after being convicted of killing her four children. But in 2018, a group of scientists began gathering evidence that suggested another possibility for the deaths — that at least two of them were attributable to a genetic mutation that can affect heart function. A judicial inquiry in 2019 failed to reverse Folbigg’s conviction, but this month, the researchers will present new evidence at a second inquiry, which could ultimately spell freedom for Folbigg.

This is an audio version of our Feature: She was convicted of killing her four children. Could a gene mutation set her free?

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