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CHOP-led team finds mutations behind rare intellectual disability

A new study led by Children's Hospital of Philadelphia researchers has identified a rare hereditary form of intellectual disability.

The syndrome was found in 13 children from nine unrelated families, the international team of authors reported in the American Journal of Human Genetics.  All had a mutation in a gene called TBCK, and all suffered from some degree of intellectual delay along with low muscle tone. Some also suffered from seizures.

When they studied the childrens' cells, the researchers also found reduced levels of signaling along a biochemical pathway called mTOR.

The scientists also found that the level of this signaling could be increased by adding the amino acid leucine, suggesting that this substance should be tested as a dietary supplement in patients.

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