Gene mutations and cognitive delay

McClellan, J. M., Walsh, T., McCarthy, S. E., King, M. C., Sebat, J. (August 2008) Gene mutations and cognitive delay. Science, 321 (5889). p. 640. ISSN 0036-8075

URL: https://www.ncbi.nlm.nih.gov/pubmed/18669843
DOI: 10.1126/science.321.5889.640a

Abstract

We congratulate T. Walsh et al. for a beautifully designed and executed study (“Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia,” Reports, 25 April, p. 539). The demonstration that the frequency of gene deletions and duplications is elevated in schizophrenia as well as in autism and many forms of mental retardation must raise suspicions that such genomic variants are not really specific for a particular disease. Buried in the Supporting Online Material is the astonishing fact that 47% of the patients with poor cognitive function (IQ < 80) had these variants, compared with only 11% of the patients with normal IQ. Poor cognitive function is a common feature of these developmental disorders and is associated with similar anatomical anomalies across a range of disorders (1–3). Perhaps genomic deletions and duplications have a nonspecific effect—restricting the flexibility of coping responses during development, constraining neuroplasticity, and rendering cognitive function more dependent on intrinsic neurobiology.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > genes, structure and function
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations
CSHL Authors:
Communities: CSHL labs > Sebat lab
Depositing User: Matt Covey
Date: 1 August 2008
Date Deposited: 26 Feb 2013 20:47
Last Modified: 19 Mar 2018 16:29
Related URLs:
URI: http://repository.cshl.edu/id/eprint/27530

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