Three papers to be published in the September 2006 issue of Nature Genetics describe a recurrent cause of mental retardation, which results from the deletion of a large segment of DNA from chromosome 17. The deletion, encompassing several genes, is associated with a region of DNA that is commonly carried in an inverted orientation by a large portion of the human population.
The deletion arises recurrently, and is reported to account for roughly 1% of cases of mental retardation among the populations screened in the three studies. It seems to be found preferentially among children of individuals who carry one particular form of the inversion, which is common among Europeans. Individuals carrying the deletion also show characteristic facial, behavioral and other clinical features, which should aid clinicians in diagnosing similar cases.
One of the deleted genes, MAPT, has been previously implicated as having a causal role in neurodegenerative disorders such as Alzheimer's and Parkinson's diseases. Loss of this gene is therefore a prime candidate for explaining some of the characteristic features associated with mental retardation.
Bert de Vries (University Medical Center Nijmegen, The Netherlands)
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David Koolen E-mail: email@example.com
Charles Shaw-Smith (University of Cambridge, UK)
Evan Eichler (University of Washington, Seattle, USA)
Abstracts available online:
Article 1 abstract.
Article 2 abstract.
Article 3 abstract.
(C) Nature Genetics press release.
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