Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms
Date
2009
Authors
Loesch, D.Z.
Godler, D.E.
Khaniani, M.
Gould, E.
Gehling, F.
Dissanayake, C.
Burgess, T.
Tassone, F.
Huggins, R.
Slater, H.
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Journal article
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American Journal of Medical Genetics, Part A, 2009; 149(10):2306-2310
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Abstract
Three allelic classes of expanded CGG trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene have been recognized. The full mutation, FM (>200 repeats), which causes a Fragile X syndrome, is normally associated with epigenetic silencing of the FMR1 gene's promoter, leading to a gross deficit of a specific protein product (FMRP), and subsequent synaptic abnormalities [Irwin et al., 2000]. In contrast, the premutation (PM) alleles, ranging from ∼55 to 200 repeats [Maddalena et al., 2001], are associated with the obvious elevation of FMR1 mRNA levels [Tassone et al., 2000]. Apart from the late‐onset neurodegenerative disorder termed “fragile X associated tremor/ataxia,” FXTAS [Hagerman et al., 2001], this elevation may account for some neurodevelopmental changes, manifesting as learning deficits [reviewed in Loesch et al., 2004], or behavioral conditions, ADHD [Farzin et al., 2006], and ASD [Clifford et al., 2007], all occurring predominantly in males.
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Link to a related website: http://europepmc.org/articles/pmc4154630?pdf=render, Open Access via Unpaywall
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Copyright 2009 Wiley-Liss