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
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..View full abstract
Awarded by NHMRC grant
This study was funded by the Mater Medical Research Institute and the Mater Foundation. PAD is supported by a Mater Foundation Fellowship. PMV and JG are supported by a NHMRC grant (APP1067795).