ArticleJournal of endocrinological investigation2023
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.
Article in Journal of endocrinological investigation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- Epigenome-wide analysis reveals potential biomarkers for radiation-induced toxicity risk in prostate cancer.Clinical epigenetics · 2025Article
- Exploring epigenetic drift and rare epivariations in amyotrophic lateral sclerosis by epigenome-wide association study.Frontiers in aging neuroscience · 2023Article
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
purposeThe elevated frequency of discordance for congenital hypothyroidism (CH) phenotype between monozygotic twins suggests the involvement of non-mendelian mechanisms. The aim of the study was to investigate the role of epigenetics in CH pathogenesis.
methodsA genome-wide DNA methylation analysis was performed on the peripheral blood of 23 twin pairs (10 monozygotic and 13 dizygotic), 4 concordant and 19 discordant pairs for CH at birth.
resultsDifferential methylation analysis did not show significant differences in methylation levels between CH cases and controls, but a different methylation status of several genes may explain the CH discordance of a monozygotic twin couple carrying a monoallelic nonsense mutation of DUOX2. In addition, the median number of hypo-methylated Stochastic Epigenetic Mutations (SEMs) resulted significantly increased in cases compared to controls. The prioritization analysis for CH performed on the genes epimutated exclusively in the cases identified SLC26A4, FOXI1, NKX2-5 and TSHB as the genes with the highest score. The analysis of significantly SEMs-enriched regions led to the identification of two genes (FAM50B and MEG8) that resulted epigenetically dysregulated in cases.
conclusionEpigenetic modifications may potentially account for CH pathogenesis and explain discordance among monozygotic twins.
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Registered trials
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