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A bioinformatics approach to the study of autosomal recessive non syndromic intellectual disability

Black, M.L., Moolhuijzen, P., Bellgard, M. and Bittles, A.H. (2009) A bioinformatics approach to the study of autosomal recessive non syndromic intellectual disability. In: Genes for Health, 2 - 6 May 2009, Fremantle, Australia.


Although non-syndromic intellectual disability (NSID) affects large numbers of people worldwide, few data have been available on specific genetic aetiologies. This lack of information has hindered both carrier detection and premarital and prenatal counselling. The integration of diverse but inter-related data types is a current major challenge in bioinformatics. Trends and commonalities are difficult to identify and while manual summations are possible they inevitably require exhaustive effort. Our aim was to integrate data generated through a web-based system that allowed research results to be shared, interpreted and cross-linked. To test this approach, publications and reports abstracted from the PubMed and OMIM databases were systematically reviewed, potential autosomal recessive NSID loci identified, and the results mapped using CMap Comparative Map software from GMOD (Generic Model Organism Database project – CMap enables disparate data to be presented in a single integrated viewer, facilitating comparative analysis and providing a critical overview of NSID-related loci and genes for decision-making. To date 12 chromosomal regions (MRT1-12) associated with NSID have been identified, mostly through homozygosity mapping in large consanguineous kindreds. These regions vary in size from 25Kb to 26Mb and are located across 10 autosomes. Genes positively associated with NSID genes include PRSS12 (MRT1, 4q26), GRIK2 (MTR6, 6q16.3-q21), and CC2D1A (MTR3, 19p13.12), all of which encode receptor proteins involved in neurone biochemistry. In addition, overlaps between MRTs and reported associations with schizophrenia and autism strongly suggest that these regions of the genome merit detailed examination.

Item Type: Conference Item
Murdoch Affiliation(s): Centre for Comparative Genomics
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