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April 20, 2026Genetic Testing and Molecular Biomarkers

MTHFR C677T and A1298C Gene Variants in Patients with Turner Syndrome and Their Mothers

Izabel Maryalexandra Rios‐Flores Lucia Flores-Contreras Lucina Bobadilla-Morales Alfredo Corona‐Rivera Sinhué Alejandro Brukman‐Jiménez Idalid Cuero‐Quezada Alexandra María Claro‐Marín Jorge Román Corona‐Rivera

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Key Points

To examine the association of MTHFR gene variants C677T and A1298C with Turner Syndrome risk in children and their mothers.
Population analysis of individuals with Turner Syndrome and their mothers
Genetic testing for C677T and A1298C MTHFR variants
Assessment of any correlation between the variants and Turner Syndrome presence
No association found between MTHFR C677T variant and Turner Syndrome risk.
No association found between MTHFR A1298C variant and Turner Syndrome risk.
Overall risk of having a child with Turner Syndrome did not link to either MTHFR variant.

Abstract

The risk of having a child with TS did not appear to be associated with the MTHFR C677T and A1298C variants in the studied population.

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Cite This Study

Rios‐Flores et al. (2026) studied this question.

synapsesocial.com/papers/69e8661d6e0dea528ddea8e2 https://doi.org/10.1177/19450265261444629

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian Turner Syndrome patientsOriginal Research · 2015 · 8 citations
2<i>MTHFR</i> 677C>T and 1298A>C Variants in Mothers of Infants with Down Syndrome from Western Mexico2024 · 1 citations
3Association of <scp>MTHFR</scp> (<scp>C677T</scp>, <scp>A1298C</scp>) and <scp>MTRR A66G</scp> polymorphisms with fatty acids profile and risk of neural tube defects2024 · 3 citations
4Thrombotic Risk Evaluation of Two Methylenetetrahydrofolate Reductase Mutations C677t and A1298c in Venous Thromboembolism2025
5B-238 Genotypic Frequency of the C677T and A1298C Variants of the MTHFR Gene in Patients with Infertility and Fetal Loss2025

More related papers

The Contribution of Ethnicity to the Association of MTHFR Variants C677T and A1298C with Autism Spectrum Disorder: A Meta-Analysis2026
Interaction effects of <i>MTHFR</i> C677T and A1298C polymorphisms with maternal glycated haemoglobin levels on adverse birth outcomes2024
Association of MTHFR C677T, MTHFR A1298C polymorphism in relation to patients with autism in Thi-Qar Governorate2024

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