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Hereditary thrombophilia parameters in children with autism spectrum disorder and their mothers

Perihan Cam Ray1, Merve Doğan1, Sevcan Bozdoğan2

  • 1Department of Child and Adolescent Psychiatry, Cukurova University Faculty of Medicine, Adana, Türkiye.

Frontiers in Pediatrics
|December 29, 2025
PubMed

Insights

The FXIII-Val34Leu gene variant was more common in children with Autism Spectrum Disorder (ASD) and their mothers, increasing ASD risk. Further research is needed to explore thrombophilia markers in ASD.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with known genetic and environmental influences.
  • Emerging evidence suggests a potential link between hereditary thrombophilia and ASD, possibly due to placental issues and neuroinflammation.
  • Thrombophilia, a condition increasing blood clot risk, involves genetic factors that may impact pregnancy and fetal development.

Purpose of the Study:

  • To investigate the frequency of specific thrombophilia-related genetic polymorphisms in children diagnosed with ASD and their mothers.
  • To determine if these genetic variations are associated with an increased risk of developing ASD.
  • To explore potential links between maternal thrombophilia and ASD in offspring.

Main Methods:

  • A case-control study comparing 24 children with ASD (ages 2-6) and their mothers to 24 age-matched healthy children and their mothers.
  • Genetic analysis using PCR to detect thrombophilia polymorphisms: FVL G1691A, FII G20210A, MTHFR C677T, MTHFR 1298AC, FXIII-Val34Leu, and PAI-1 4G/5G.
  • Statistical analyses, including logistic regression, were used to evaluate associations between polymorphisms and ASD, controlling for relevant factors.

Main Results:

  • The FXIII-Val34Leu heterozygous variant was significantly more prevalent in children with ASD (37.5%) and their mothers (54.2%) compared to controls (8.3% and 16.7%, respectively).
  • Logistic regression indicated that the FXIII-Val34Leu heterozygous polymorphism in either mother or child increased the odds of ASD by approximately 4.130-fold.
  • No significant differences were found for other tested thrombophilia polymorphisms between ASD cases and controls. Children with ASD also showed developmental delays.

Conclusions:

  • The FXIII Val34Leu mutation is notably more frequent in children with ASD and their mothers, suggesting a potential genetic risk factor.
  • This finding highlights the FXIII Val34Leu polymorphism as a potential marker for ASD risk.
  • Further large-scale, longitudinal studies are essential to confirm these findings and explore the role of thrombophilia markers in ASD pathogenesis.
Abstract

Keywords:
MTHFR gene mutationautism spectrum disorderfactor XIII Va34Leugenetic polymorphismhereditary thrombophilianeurodevelopment

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