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Gene linked to cognitive malformation identified

Gene linked to cognitive malformation identified
6th July 2012

A gene linked to cognitive malformation has been identified by scientists at the Medical College of Georgia.

Researchers analysed patients with Potocki-Shaffer syndrome, a disorder that leads to small head and chin abnormalities, in addition to intellectual disabilities.

Potocki-Shaffer syndrome is a contiguous gene deletion syndrome caused by the deletion of a specific region of chromosome 11.

When researchers observed patients with this condition, they found that in these individuals the gene PHF21A was mutated, causing cognitive malfunction.

Dr Hyung-Goo Kim, lead and corresponding author on the study and molecular geneticist at Georgia Health Sciences University, commented: "With less PHF21A, brain cells died, so this gene must play a big role in neuron survival."

It is hoped that the discovery will enable patients to be genetically screened for the condition, leading to earlier interventions with therapies to increase PHF21A levels.

Researchers are hopeful that such therapies will be capable of being delivered during foetal development.

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