Extremely Rare Gene Mutation Caused a Woman to Spend 20 Years in Jail for Apparently Killing Her Children

Extremely Rare Gene Mutation Caused a Woman to Spend 20 Years in Jail for Apparently Killing Her Children

Kathleen Folbigg was convicted of killing her four children 20 years ago and has been granted a full pardon after new evidence emerged, according to ScienceAlert. The deaths of her two daughters were found to be caused by a rare genetic mutation in the CALM gene, leading to a syndrome known as calmodulinopathy. This mutation is so rare that it affects an estimated one in 35 million people worldwide. The deaths of her two sons may be attributed to a different mutation.

During the original trial, circumstantial evidence, including entries in the woman’s diary, led to her conviction. However, advances in genetic research since then have allowed scientists to examine children’s DNA for mutations. It was discovered that CALM gene mutations, which affect the production of the vital protein calmodulin, were present in two of Folbigg’s daughters.

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Additional evidence showed that the mutated proteins could not regulate calcium ion channels properly, leading to respiratory issues and potentially contributing to sudden cardiac death in children. Furthermore, one of the sons had a mutation in the BSN gene, which could explain his medical conditions and early death.

Folbigg stated as ScienceAlert quotes:

Today is a victory for science and especially truth,

And for the last 20 years I have been in prison I have forever and will always think of my children, grieve for my children, and miss them and love them terribly.

Following a petition signed by 90 scientists and a second inquiry, Folbigg was granted a pardon a few days ago, on June 5, 2023. If her conviction is overturned in the Court of Criminal Appeal, she may have grounds to seek compensation from the government. The case highlights the importance of genetic research in revisiting past convictions and understanding the underlying causes of complex medical conditions.



Even since he was a child, Cristian was staring curiously at the stars, wondering about the Universe and our place in it. Today he's seeing his dream come true by writing about the latest news in astronomy. Cristian is also glad to be covering health and other science topics, having significant experience in writing about such fields.

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