Journal article

Gene networks associated with non-syndromic intellectual disability

Soohyun Lee, Stephen Rudd, Jacob Gratten, Peter M Visscher, Johannes B Prins, Paul A Dawson

JOURNAL OF NEUROGENETICS | TAYLOR & FRANCIS LTD | Published : 2018

Abstract

Non-syndromic intellectual disability (NS-ID) is a genetically heterogeneous disorder, with more than 200 candidate genes to date. Despite the increasing number of novel mutations detected, a relatively low number of recurrently mutated genes have been identified, highlighting the complex genetic architecture of the disorder. A systematic search of PubMed and Medline identified 245 genes harbouring non-synonymous variants, insertions or deletions, which were identified as candidate NS-ID genes from case reports or from linkage or pedigree analyses. From this list, 33 genes are common to syndromic intellectual disability (S-ID) and 58 genes are common to certain neurological and neuropsychiat..

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University of Melbourne Researchers