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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Related Experiment Video

Updated: Dec 27, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
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Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

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Fragile X- associated Neuropsychiatric Disorders: A Case Report.

Maria Melinda Tan1,2,3, Jeanne Barbara Dy1,2,4, Maria Jimena Salcedo-Arellano1,5

  • 1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA, USA.

Future Neurology
|February 25, 2020
PubMed
Summary
This summary is machine-generated.

Fragile X gene mutations cause developmental and neurodegenerative disorders. This case report highlights Fragile X-associated Neuropsychiatric Disorders (FXAND) in a premutation carrier with psychiatric issues, pain, and sleep disturbances.

Keywords:
FMR1FXANDFragile X-associated Neuropsychiatric Disordersanxietydepressionpremutation carrier

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Area of Science:

  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Mutations in the Fragile X Mental Retardation 1 (FMR1) gene are associated with a spectrum of disorders.
  • The FMR1 gene has two main mutation types: full mutation (Fragile X Syndrome) and premutation (associated with FXPOI, FXTAS).
  • Fragile X-associated Neuropsychiatric Disorders (FXAND) is a newly proposed term for conditions commonly found in premutation carriers.

Purpose of the Study:

  • To present a case report of a female premutation carrier.
  • To describe the psychiatric, pain, and sleep issues experienced by the patient.
  • To discuss the consistency of these symptoms with FXAND.

Main Methods:

  • Case report presentation.
  • Review of patient's medical history and symptoms.
  • Literature review on FMR1 gene mutations and associated disorders.

Main Results:

  • The patient, a female FMR1 premutation carrier, presented with significant psychiatric problems.
  • She also experienced chronic pain and sleep disturbances.
  • These symptoms align with the characteristics of FXAND.

Conclusions:

  • FXAND encompasses a range of neuropsychiatric conditions in FMR1 premutation carriers.
  • This case illustrates the diverse clinical manifestations of FXAND, including psychiatric, pain, and sleep issues.
  • Further research is needed to fully understand and manage FXAND.