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Oxford scientists have for the first time been able to identify the origins of some severe disease-causing mutations within the testicles of normal men.

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This discovery will help our understanding of how certain serious genetic disorders can occur in the offspring of healthy parents, who do not themselves have the genetic defect. The research is published in the journal PNAS.

For the Oxford team, it is just the latest phase in a research programme that has been running for over 20 years. In the 1990s Professor Andrew Wilkie and colleagues were investigating a condition called Apert syndrome that affects the development of the skull and limbs. Most children with Apert syndrome are born to unaffected parents and Professor Wilkie's team showed that these cases are caused by new mutations (in a gene called FGFR2) that spontaneously arose as the father’s testes produced new sperm. Based on the prevailing knowledge of how spontaneous mutations arise, we would expect Apert syndrome to be extremely rare, but surprisingly cases occur up to 1,000 times more frequently than this.

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