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

Kaufman, L.; Ayub, M.; Vincent, J.B.

doi:10.1007/s11689-010-9055-2

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

Kaufman, L.; Ayub, M.; Vincent, J.B.

Authors

L. Kaufman

M. Ayub

J.B. Vincent

Abstract

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.

Citation

Kaufman, L., Ayub, M., & Vincent, J. (2010). The genetic basis of non-syndromic intellectual disability: a review. Journal of Neurodevelopmental Disorders, 2(4), 182-209. https://doi.org/10.1007/s11689-010-9055-2

Journal Article Type	Article
Publication Date	Dec 1, 2010
Deposit Date	Jun 22, 2011
Publicly Available Date	Jul 12, 2011
Journal	Journal of Neurodevelopmental Disorders
Print ISSN	1866-1947
Electronic ISSN	1866-1956
Publisher	BioMed Central
Peer Reviewed	Peer Reviewed
Volume	2
Issue	4
Pages	182-209
DOI	https://doi.org/10.1007/s11689-010-9055-2
Keywords	Intellectual disability, Non-syndromic, Genetic basis, Convergent pathways.