Article 6P50Z Scientists uncover genetic disorder that may affect thousands around world

Scientists uncover genetic disorder that may affect thousands around world

by
Ian Sample Science editor
from Science | The Guardian on (#6P50Z)

Mutation in RNU4-2 gene linked to severe developmental delay, with hundreds of people already diagnosed

A genetic disorder that causes severe disabilities in children and adults has been discovered by researchers who believe the newly identified condition could affect hundreds of thousands of people around the world.

Scientists have already diagnosed hundreds of people in the UK, Europe and the US after examining their DNA and spotting mutations in the gene linked to the disorder. Far more are expected to be found as further testing takes place.

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