In utero alcohol and unsuitable home environmental exposure combined with FMR1 full mutation allele cause severe fragile X syndrome phenotypes
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We investigated the molecular and clinical profile of five boys carrying the fragile X messenger ribonucleoprotein 1 (FMR1) mutation and who suffered from the effects of prenatal alcohol exposure. Fragile X syndrome (FXS) testing was performed using PCR and Southern Blot analysis, and fragile X messenger ribonucleoprotein protein (FMRP) expression levels were measured by Western blot analysis. Clinical evaluation included cognitive functions, adaptive skills, autism phenotype, and severity of behavior measures. Fetal Alcohol Spectrum Disorder (FASD) was also assessed. Five adopted male siblings were investigated, four of which (cases 1, 2, 3, and 4) were diagnosed with FXS, FASD, and ASD, and one, the fraternal triplet (case 5), was diagnosed with FASD and ASD and no FXS. The molecular profile of case 1 and 2 showed the presence of a hypermethylated full mutation (FM) and the resulting absence of FMRP. Cases 3 and 4 (identical twins) were FM-size mosaics (for the presence of an FM and a deleted allele), resulting in 16% and 50% FMRP expression levels, respectively. FMRP expression level was normal in case 5 (fraternal twin). Severe behavioral problems were observed in all cases, including aggression, tantrum, self-harming, anxiety, and defiant behavior, due to different mutations of the FMR1 gene, in addition to biological exposure, home environmental factors, and potentially to additional background gene effects.
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Full mutation of FMR1, with large CGG repeat expansions that silence the gene, is strongly associated with fragile X syndrome and a high rate of ASD.
“Full mutation of FMR1, with large cytosine-guanine-guanine repeat expansions that silence the gene, is strongly associated with fragile X syndrome and a high rate of ASD (Winarni et al., 2025).”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Winarni et al., 2025
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- Authors
- Winarni, T. I., Aishworiya, R., Culpepper, H., Zafarullah, M., Mendoza, G., Wilaisakditipakorn, T. J., Likhitweerawong, N., Law, J., Hagerman, R., & Tassone, F.
- Affiliations
- Diponegoro University (ID)
- National University of Singapore (SG)
- University of California Davis Medical Center (US)
- Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Sacramento, CA 95817, USA
- Corresponding author
- Tassone, Flora
- ORCID
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2025-03-21
- Volume
- 26
- Issue
- 7
- Pages
- 2840
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC11988866
- OpenAlex
- W4408719222
- Cited by
- 3
- References
- 69
- Citations by year
- 2026: 2 · 2025: 1
- FWCI
- 1.76
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- NICHD (HD036071, P50 HD103526)
- MIND Institute Intellectual and Developmental Disabilities Research Center (HD036071, P50 HD103526)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Substance Exposure Effects
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- fragile X syndrome, FMR1 full mutation, prenatal alcohol exposure, fetal alcohol spectrum disorders, autism spectrum disorder, DNA methylation, behavioral problems, brothers, monozygotic twins, dizygotic twins
- MeSH terms
- Ethanol, Alleles, Child, Child, Preschool, Environmental Exposure, Female, Fragile X Syndrome, Humans, Male, Mutation, Phenotype, Pregnancy, Prenatal Exposure Delayed Effects, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1, Fetal Alcohol Spectrum Disorders
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