FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.

Scientific Reports
Emma K BakerDavid Godler

Abstract

Fragile X syndrome (FXS) is caused by a hypermethylated full mutation (FM) expansion with ≥ 200 CGG repeats, and a decrease in FMR1 mRNA and its protein. However, incomplete silencing from FM alleles has been associated with more severe autism features in FXS males. This study compared scores on the Aberrant Behavior Checklist-Community-FXS version (ABC-CFX) in 62 males affected with FXS (3 to 32 years) stratified based on presence or absence of mosaicism and/or FMR1 mRNA silencing. Associations between ABC-CFX subscales and FMR1 mRNA levels, assessed using real-time PCR relative standard curve method, were also examined. The FXS group mosaic for premutation (PM: 55-199 CGGs) and FM alleles had lower irritability (p = 0.014) and inappropriate speech (p < 0.001) scores compared to males with only FM alleles and complete loss of FMR1 mRNA. The PM/FM mosaic group also showed lower inappropriate speech scores compared to the incomplete silencing (p = 0.002) group. Increased FMR1 mRNA levels were associated with greater irritability (p < 0.001), and lower health-related quality of life scores (p = 0.004), but only in the incomplete silencing FM-only group. The findings suggest that stratification based on CGG sizing and FMR1 mRNA le...Continue Reading

References

Jan 13, 2000·American Journal of Human Genetics·F TassoneP J Hagerman
Jul 14, 2001·American Journal of Medical Genetics·F TassoneP J Hagerman
Nov 26, 2004·Human Molecular Genetics·Roberta PietrobonoGiovanni Neri
Nov 1, 2005·The Journal of Molecular Diagnostics : JMD·Alessandro SalutoAlfredo Brusco
Oct 6, 2011·Journal of Autism and Developmental Disorders·Stephanie M SansoneDavid Hessl
Aug 18, 2012·International Journal of Pediatrics·Elizabeth Berry-KravisShaguna Mathur
May 23, 2013·Translational Neurodegeneration·Dalyir I PrettoFlora Tassone
Sep 14, 2013·Clinical Genetics·L Santa MaríaF Tassone
Jul 27, 2014·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Cicely KerrJennifer Petrillo
Jan 15, 2016·Science Translational Medicine·Elizabeth Berry-KravisFlorian von Raison
Jun 16, 2017·Journal of Neurodevelopmental Disorders·Dejan B BudimirovicWalter E Kaufmann

❮ Previous
Next ❯

Citations

Sep 22, 2021·American Journal of Medical Genetics. Part a·Essra BartlettDavid E Godler

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

Stata

Related Concepts

Related Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.