Trial reportHormone research in paediatrics2015
Somatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis.
Trial report in Hormone research in paediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.European journal of human genetics : EJHG · 2019Trial
- 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
- GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.Human molecular genetics · 2022Article
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
- Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.Thyroid : official journal of the American Thyroid Association · 2022Article
- New genetics in congenital hypothyroidism.Endocrine · 2021Review
- Familial-Related Risks for Congenital Hypothyroidism in Iranian Newborns: A Population-Based Case-Control Study.International journal of endocrinology and metabolism · 2021Article
- [Ectopic tissue of the thyroid gland and the parathyroid glands].Der Pathologe · 2018Review
- Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient.International journal of endocrinology · 2018Article
- MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Nucleic acids research · 2017Article
- Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing.Chinese medical journal · 2016Article
- Genetic mosaics and the germ line lineage.Genes · 2015Review
- Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.F1000prime reports · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
BACKGROUND/
aimsCongenital primary hypothyroidism (CH) is a rare pediatric disorder estimated to occur in about 1:2,500 live births. Approximately half of these cases entail ectopic thyroid tissue, which is believed to result from a migration defect during embryogenesis. Approximately 3% of CH cases are explained by mutation(s) in known genes, most of which are transcription factors implicated in the embryology of the thyroid gland. Surprisingly, monozygotic (MZ) twins are usually discordant for CH due to thyroid dysgenesis, suggesting that most cases are not caused by transmitted genetic variation. One possible explanation is somatic mutation in genes involved in thyroid migration occurring after zygotic twinning. Such mutations should be observed only in the affected twin.
methodsTo test the hypothesis of somatic mutation, we performed whole exome sequencing of DNA from three pairs of MZ twins discordant for CH with ectopic glands.
resultsWe found no somatic mutations exclusive to any of the three affected twins or in any of the unaffected twins.
conclusionEither somatic mutations are not significant for the etiology of CH or else such mutations lie outside regions of the genome accessible by exome sequencing technology.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.