4.3 Review

The genetic basis of non-syndromic intellectual disability: a review

Journal

JOURNAL OF NEURODEVELOPMENTAL DISORDERS
Volume 2, Issue 4, Pages 182-209

Publisher

BMC
DOI: 10.1007/s11689-010-9055-2

Keywords

Intellectual disability; Non-syndromic; Genetic basis; Convergent pathways

Funding

  1. Ontario Graduate Scholarship

Ask authors/readers for more resources

Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available for the diagnosing physician to identify a known syndrome, which may then educe the identification of the causative defect However, where co-morbid features are absent, narrowing down a specific gene can only be done by 'brute force' using the latest molecular genetic techniques Here we attempt to provide a systematic review of genetic causes of cases of ID where no other symptoms or co-morbid features are present, or non-syndromic ID We attempt to summarize commonalities between the genes and the molecular pathways of their encoded proteins Since ID is a common feature of autism, and conversely autistic features are frequently present in individuals with ID, we also look at possible overlaps in genetic etiology with non-syndromic ID

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.3
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available