Modes of imprinted gene action in learning disability

Journal of Intellectual Disability Research : JIDR
A R Isles, T Humby

Abstract

It is now widely acknowledged that there may be a genetic contribution to learning disability and neuropsychiatric disorders, stemming from evidence provided by family, twin and adoption studies, and from explicit syndromic conditions. Recently it has been recognized that in some cases the presentation of genetic syndromes (or discrete aspects of disorders) is dependent on the sex of the transmitting parent. Such 'parent-of-origin effects' can be explained by a number of genetic mechanisms, a predominant one of which is genomic imprinting. Genomic imprinting refers to the parent of origin-specific epigenetic marking of an allele of a gene, such that for some genes it is mainly the maternally inherited allele only that is expressed, whereas for others expression occurs mainly from the paternal copy. Here we discuss the contribution of imprinted genes to mental dysfunction and learning disability, using clinical examples of association studies and explicit imprinting disorders (with particular emphasis to Angelman and Prader-Willi syndromes), and evidence from animal work. Clinical and animal studies strongly suggest that imprinted genes contribute to brain functioning, and when the genes or epigenetic processes are disrupted, th...Continue Reading

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Citations

Sep 12, 2008·Biological Reviews of the Cambridge Philosophical Society·Bernard Crespi
Mar 5, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Lindsey KentEamonn R Maher
Feb 9, 2010·Journal of Intellectual Disability Research : JIDR·P CopetD Thuilleaux
Jun 15, 2007·Child and Adolescent Psychiatric Clinics of North America·Deepa V Venkitaramani, Paul J Lombroso
Aug 8, 2013·Journal of Neurodevelopmental Disorders·Joseba JauregiDenise Thuilleaux
Mar 9, 2011·Journal of Learning Disabilities·James B HaleNicole Jones

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