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Preferential transmission of the mutant allele(s) of the ARX homeobox gene.

The University of Adelaide
Channel 7 Children's Research Foundation
Dr Cheryl Shoubridge

Project Summary

Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is one of the most frequent genes mutated in X chromosome- linked intellectual disability. Our recent work has reported that we observe a higher than expected inheritance of these mutations from mothers carrying these mutations. Our study will specifically examine the reasons behind this preferential inheritance of the disease causing mutations leading to intellectual disability.

A/Professor Cheryl Shoubridge (email)
Women's & Children's Hospital - Paediatrics
The University of Adelaide
Business: 0 8161 8105