Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms
| Autor: | Emma Gould, Cheryl Dissanayake, Howard R. Slater, David E. Godler, Trent Burgess, Mahmoud Shekari Khaniani, Freya Gehling, K. H. Andy Choo, Flora Tassone, Richard Huggins, Danuta Z. Loesch |
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| Přispěvatelé: | Loesch, Danuta Z, Godler, David E, Khaniani, Mahmoud, Gould, Emma, Gehling, Freya, Dissanayake, Cheryl, Burgess, Trent, Tassone, Flora, Huggins, Richard, Slater, Howard, Choo, KH Andy |
| Rok vydání: | 2009 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Psychological science Adolescent Genetic Linkage Anthropology Developmental Disabilities epigenetic mechanisms education epigenetic therapy Biology Article Epigenesis Genetic Fragile X Mental Retardation Protein Young Adult Gene Frequency Genetics Humans FMR1 alleles Child Genetics (clinical) neurodevelopment Extramural humanities nervous system diseases Child Development Disorders Pervasive Case-Control Studies Child Preschool Trinucleotide Repeat Expansion |
| Zdroj: | American Journal of Medical Genetics Part A. :2306-2310 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.32990 |
| Popis: | 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. Refereed/Peer-reviewed |
| Databáze: | OpenAIRE |
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