Scientists discover a new cause of physical deformity

Australian researchers have helped identify a rare genetic disorder which reduces the production of cholesterol in children and results in deformities.

Cholesterol is a molecule that provides instructions for healthy growth. Along with dietary cholesterol, cholesterol is produced naturally by the body and is needed for normal foetal and childhood development. Now, Dr James Pitt from Murdoch Children’s Research Institute (MCRI) and Professor David Coman from Lady Cilento Children’s Hospital have identified a new genetic condition that impedes childhood cholesterol production.

Collaborating with colleagues from The Children’s Hospital at Westmead, the US and the Netherlands, the researchers studied children from two families with brain abnormalities, seizures, webbed feet, genital malformations and delayed development. The results of their research have been published in The American Journal of Human Genetics.

“Our tests of the children’s urine clearly indicated there was a problem with a gene called FDFT1, which is critical for the biochemical pathway that produces cholesterol,” Dr Pitt said. “We have identified a new disorder of cholesterol metabolism.

“We do not yet know how many children are affected by this, but our studies suggest it is rare.”

The researchers were also able to develop a test to identify the condition — one which can be included in existing urine tests, performed on children with these symptoms. Dr Pitt said being able to diagnose rare disorders is vital, because doctors can then give families essential information.

“Early diagnosis of patients leads to improved outcomes and helps improve the quality of the lives of the patients and their families,” he said.

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