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Mice clue to CdLS gene


Dr Emma Tonkin (left) shares ideas with US medical director Dr Tonie Kline during a coffee break at Peebles.

A colony of mice with some characteristics similar to CdLS may give clues to the human condition.

The mice are now being studied in the latest phase of the gene research project at Newcastle University.

They have small offspring, some limb defects, hearing difficulties and altered facial features.


Researcher, Dr Emma Tonkin hopes the studies will give new, useful information.

“We know that these mice have a mutation in a gene on chromosome 3,” said Emma. “The gene is scientifically close enough toto the region in which one of our CdLS individuals has a chromosone break to warrant investigation.”

The ‘linkage’ study – looking at the DNA characteristics of CdLS people and their relatives who don’t have the syndrome has yet to yield any conclusive data.

However, two additional families – one from the UK and the other from Poland – are now available to supply DNA to the US-based project and this should boost the chances of identifying trends.

The research into chromosomal abnormalities suggests that possibly more than one gene may be involved in CdLS.
Reaching Out newsletter
October 2002