Prince Henry's Institute - Novel human genetic mutation








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Media Release

15 July 03

Novel human genetic mutation reveals dual role for SOX 9 gene

Researchers at Prince Henry’s Institute and the University of California, Los Angeles, have found a mutation of the SOX9 gene in a unique Campomelic Dysplasia patient. This mutation of the SOX9 gene could provide the clue to improving treatment for this rare but traumatic disease.
Campomelic Dysplasia or CD is one of a series of intersex conditions that affect one in 4,000 Australians. Patients experience a severe form of dwarfism along with a variation in sex organs. Typically CD patients are XY male but present as female, because their testes do not develop .

Scientists discovered the mutation of the SOX9 protein when they sequenced DNA from a unique CD patient who experiences an unusual form of the CD syndrome – abnormal bones but normal testes.

“In this patient we found a mutation of the SOX9 protein – it could not switch on bone making genes but it could switch on testes-making genes. This is an extraordinary finding that shows the regulation of a gene previously not known in the human genome,” Associate Professor Vincent Harley of Prince Henry’s Institute said.

“We have discovered a mechanism by which genes’ roles can be controlled separately in humans, creating enormous possibilities for potential treatments of genetic diseases such as CD,” he said.

“Patients with this condition find it very difficult to lead normal lives. Any insight into this condition is a step in the right direction to improving diagnosis and quality of life,” said Associate Professor Eric Vilain, a clinician in intersex conditions and collaborator in the research.

“The clinical implication of this research is of improved diagnosis and decision-making about gender assignment at the time of birth,” he said.

To be published in the July issue of the international journal Human Molecular Genetics, this research is the first demonstration of a dual role of a gene that explains a human genetic disease.

Drs Vilain and Harley are collaborating on further intersex research through a recently funded US National Institutes of Health grant.

Contact Ian Muchamore, Science Communications

Tel : (03) 9594 4049 or 0415 551 705