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In Utero Alcohol and Unsuitable Home Environmental Exposure Combined with FMR1 Full Mutation Allele Cause Severe

Tri Indah Winarni1, Ramkumar Aishworiya2,3, Hannah Culpepper4

  • 1Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang 50275, Central Java, Indonesia.

International Journal of Molecular Sciences
|April 17, 2025
PubMed

Insights

Fragile X syndrome (FXS) and Fetal Alcohol Spectrum Disorder (FASD) co-occur in siblings, with varying FMR1 gene mutations impacting FMRP protein levels and causing severe behavioral issues.

Area of Science:

  • Genetics and Neurodevelopmental Disorders
  • Molecular Biology and Clinical Phenotyping

Background:

  • Investigating the complex interplay between genetic mutations and environmental exposures.
  • Understanding the molecular and clinical profiles of individuals with co-occurring Fragile X syndrome (FXS) and Fetal Alcohol Spectrum Disorder (FASD).

Purpose of the Study:

  • To characterize the molecular and clinical features of five boys with FMR1 mutations and prenatal alcohol exposure.
  • To assess the impact of different FMR1 gene mutations and FMRP protein expression levels on clinical outcomes, including behavioral phenotypes.

Main Methods:

  • Fragile X syndrome (FXS) testing using PCR and Southern Blot analysis.
  • Fragile X messenger ribonucleoprotein protein (FMRP) expression measurement via Western blot.
  • Clinical evaluations including cognitive, adaptive, autism, and behavioral assessments; FASD assessment.

Main Results:

  • Four siblings diagnosed with FXS, FASD, and Autism Spectrum Disorder (ASD); one with FASD and ASD but no FXS.
  • Varied FMR1 mutations observed: hypermethylated full mutation (FM) with absent FMRP, FM-size mosaicism with partial FMRP expression (16-50%), and normal FMRP.
  • All cases exhibited severe behavioral problems, including aggression, anxiety, and self-harming behaviors.

Conclusions:

  • Co-occurrence of FXS and FASD in siblings is associated with significant behavioral challenges.
  • FMR1 gene mutations and resultant FMRP levels, alongside prenatal alcohol exposure and environmental factors, contribute to the observed clinical and behavioral phenotypes.
  • Further research into genetic and environmental interactions is warranted for comprehensive understanding and management.

Keywords:
CGG repeat expansionautism spectrum disorderfetal alcohol spectrum disorderfragile X syndromemosaicism

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