| Autor: |
CM Kraan, Baker, Emma, M Arpone, M Bui, L Ling, D Gamage, L Bretherton, C Rogers, MJ Field, TL Wotton, D Francis, MF Hunter, J Cohen, DJ Amor, DE Godler |
| Rok vydání: |
2020 |
| Předmět: |
|
| DOI: |
10.26181/5fd816dfd58b6 |
| Popis: |
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. Fragile X syndrome (FXS) is a leading single-gene cause of intellectual disability (ID) with autism features. This study analysed diagnostic and prognostic utility of the Fragile X-Related Epigenetic Element 2 DNA methylation (FREE2m) assessed by Methylation Specific-Quantitative Melt Analysis and the EpiTYPER system, in retrospectively retrieved newborn blood spots (NBS) and newly created dried blood spots (DBS) from 65 children with FXS (~2–17 years). A further 168 NBS from infants from the general population were used to establish control reference ranges, in both sexes. FREE2m analysis showed sensitivity and specificity approaching 100%. In FXS males, NBS FREE2m strongly correlated with intellectual functioning and autism features, however associations were not as strong for FXS females. Fragile X mental retardation 1 gene (FMR1) mRNA levels in blood were correlated with FREE2m in both NBS and DBS, for both sexes. In females, DNAm was significantly increased at birth with a decrease in childhood. The findings support the use of FREE2m analysis in newborns for screening, diagnostic and prognostic testing in FXS. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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