Study challenges common belief that Rett Syndrome is rarely inherited

A new study published in recent days challenges the commonly-held belief that Rett Syndrome is rarely an inherited condition.

The research, which was carried out by a team at Peking University in Beijing, China, analysed data from 21 different families and found that nearly one in four men who had a daughter with Rett syndrome were carrying mutations linked to the condition in their sperm.

Following these findings, calls have begun emerging for doctors to take sperm samples from men who have children living with Rett syndrome in order to assess the potential risk of any of their future children also inheriting the condition.

Rett syndrome is a rare condition related to autism which affects young girls. The condition, which typically stems from a mutation in a gene known as MECP2, has long been thought to arise spontaneously.

However, this study challenges that commonly-held belief by suggesting that in at least a handful of cases, the syndrome will originate in the father’s sperm and can therefore be inherited.

Liping Wei, one of the study’s authors, said: “Mutations in parental germline cells may be the origin of the ‘de novo’ mutations in some Rett patients.”

Anne Goriely, Associate Professor of Human Genetics at the University of Oxford, added that the Peking University’s approach to examining the issue was well-founded.

“[Most studies] typically look at saliva or blood from the parent, but mostly it’s not the right tissue,” she said.

“What you want to look at are the gametes of the parents, because that’s where the child came from.”

It is hoped that Peking University’s research will help to improve further understanding of how the condition materialises.

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