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Related Concept Videos

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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
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Related Experiment Video

Updated: Dec 18, 2025

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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Fragile X Premutation Associated Conditions (FXPAC).

Kirsten Johnson1, Jonathan Herring2, Jörg Richstein3

  • 1The Fragile X Society, Great Dunmow, United Kingdom.

Frontiers in Pediatrics
|June 16, 2020
PubMed
Summary

The European Fragile X Network proposes Fragile X Premutation Associated Conditions (FXPAC) as a universal term for all FMR1 premutation-related issues. This new umbrella term aims to improve patient care and advance research into these diverse conditions.

Keywords:
FXPACFXPOIFXTASFragile Xpremutation

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Area of Science:

  • Genetics
  • Neurology
  • Reproductive Medicine

Background:

  • The FMR1 premutation is associated with several distinct clinical conditions.
  • Currently, no single umbrella term exists for all conditions linked to the FMR1 premutation.
  • Established conditions include Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS).

Purpose of the Study:

  • To propose a universal term, Fragile X Premutation Associated Conditions (FXPAC), for all issues linked to the FMR1 premutation.
  • To facilitate better clinical understanding and diagnosis of premutation carrier conditions.
  • To encourage broader research into the interrelationships between various FX premutation-associated conditions.

Main Methods:

  • Literature review of existing conditions associated with the FMR1 premutation.
  • Consensus proposal by the European Fragile X Network (EFXN).
  • Definition and scope of the proposed universal term FXPAC.

Main Results:

  • Identification of the need for a unifying term for FMR1 premutation-associated conditions.
  • Proposal of 'Fragile X Premutation Associated Conditions (FXPAC)' as the universal designation.
  • Recognition of ongoing discoveries regarding physical and psychological impacts on premutation carriers.

Conclusions:

  • Adoption of FXPAC will standardize terminology for FMR1 premutation-related disorders.
  • A universal term will aid clinicians in patient management and diagnosis.
  • FXPAC will support comprehensive research into the spectrum of FX premutation conditions.