Disrupted DNA repair causes Intellectual Disability

Vries De , Bert

Researchers from the Dept. of Human Genetics of the Radboudumc, Dr. Bert de Vries (photo), Dr. Arjan de Brouwer  and Dr. Janneke Schuurs-Hoeijmakers, together with international colleagues have discovered that the intellectual disability in three Irish brothers is caused by a mutation in a DNA repair gene: TDP2.  During their life's this defective gene also causes epileptic seizures and severe movement disorders (ataxia).

These research results were recently published in Nature Genetics.


Fernando Gómez-Herreros, Janneke H M Schuurs-Hoeijmakers, Mark McCormack, Marie T Greally, Stuart Rulten, Rocío Romero-Granados, Timothy J Counihan, Elija Chaila, Judith Conroy, Sean Ennis, Norman Delanty, Felipe Cortés-Ledesma, Arjan P M de Brouwer, Gianpiero L Cavalleri, Sherif F El-Khamisy, Bert B A de Vries & Keith W Caldecott. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function.  Nature Genetics, Mar 2014. 

Proofs: link

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