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The network structure of daily stress process components: Comparing mothers of children with and without developmental disabilities.

Development and psychopathology·2026
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Related Experiment Video

Updated: Apr 23, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Low-normal FMR1 CGG repeat length: phenotypic associations.

Marsha R Mailick1, Jinkuk Hong1, Paul Rathouz2

  • 1Waisman Center, University of Wisconsin-Madison Madison, WI, USA.

Frontiers in Genetics
|September 25, 2014
PubMed
Summary

Individuals with low-normal CGG repeats in the FMR1 gene show cognitive and mental health issues. This fragile X gene variant also increases cancer risk and the likelihood of having children with disabilities.

Keywords:
FMR1 CGG expansionsfragile X syndromegenotype–phenotype correlations

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Area of Science:

  • Genetics
  • Neuroscience
  • Human Health

Background:

  • The fragile X mental retardation 1 (FMR1) gene is crucial for brain development, encoding FMRP, which regulates protein synthesis for synaptic plasticity.
  • Research has primarily focused on FMR1 premutations (41-200 CGG repeats) and fragile X syndrome (200+ repeats), neglecting the low-normal range.
  • Understanding the full spectrum of CGG repeat effects is essential for comprehensive FMR1 gene knowledge.

Purpose of the Study:

  • To investigate genotype-phenotype correlations in individuals with low-normal CGG repeat counts in the FMR1 gene.
  • To compare cognitive function, mental health, cancer incidence, and reproductive outcomes in those with low-normal CGG repeats versus normal ranges.
  • To explore the health implications of reduced CGG repeat numbers, complementing existing research on expansions.

Main Methods:

  • A population-based study utilizing existing data to analyze FMR1 CGG repeat counts.
  • Comparison of older adults with 23 or fewer CGG repeats (low-normal) against age-peers with 24-40 CGG repeats (normal).
  • Assessment of cognitive abilities, mental health status, cancer history, and offspring disability in the studied groups.

Main Results:

  • Men and women with low-normal FMR1 CGG repeats exhibited significant difficulties with memory and problem-solving.
  • Women with two low-normal FMR1 alleles reported increased alcohol tolerance and higher odds of breast and uterine cancers.
  • Individuals with low-normal CGG repeats had increased odds of having children with developmental or mental health disabilities.

Conclusions:

  • Low-normal CGG repeat numbers in the FMR1 gene, similar to expansions, may be associated with adverse health outcomes.
  • Findings support the hypothesis that precise neuronal homeostatic control, influenced by CGG repeat numbers, is vital for optimal cognitive and behavioral function.
  • This study highlights the need to consider the full range of FMR1 CGG repeat variations for understanding gene function and associated health risks.