ArticleThe Journal of clinical endocrinology and metabolism2017
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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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
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.Frontiers in endocrinology · 2025Pooled it
- Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.Thyroid : official journal of the American Thyroid Association · 2021Guideline
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- Gene expression analysis for feed efficiency trait in liver tissue of lactating Girolando cows.Genetics and molecular biology · 2026Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- Living on the Edge: ROS Homeostasis in Cancer Cells and Its Potential as a Therapeutic Target.Antioxidants (Basel, Switzerland) · 2025Review
- Genetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.European thyroid journal · 2025Review
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
- Patients with Thyroid Dyshormonogenesis andInternational journal of molecular sciences · 2024Article
- Iodine and Thyroid Maternal and Fetal Metabolism during Pregnancy.Metabolites · 2023Review
- Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2022Article
- MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.European journal of endocrinology · 2022Review
- Genetics of congenital hypothyroidism: Modern concepts.Pediatric investigation · 2022Review
- A single nucleotide mutation in the dual-oxidase 2 (National science review · 2022Article
- Silent but Not Harmless: A SynonymousFrontiers in endocrinology · 2022Article
- Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.Frontiers in endocrinology · 2022Review
- Article
- New genetics in congenital hypothyroidism.Endocrine · 2021Review
- Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring's Health.Frontiers in endocrinology · 2021Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g., dietary iodine) and oligogenic modifiers (e.g., variants in the homologous reduced form of NAD phosphate-oxidase DUOX1). However, loss-of-function mutations in DUOX1 have not hitherto been described, and its role in thyroid biology remains undefined. Case Description: We previously described a Proband and her brother (P1, P2) with unusually severe CH associated with a DUOX2 homozygous nonsense mutation (p.R434*); P1, P2: thyrotropin >100 µU/mL [reference range (RR) 0.5 to 6.3]; and P1: free T4 (FT4) <0.09 ng/dL (RR 0.9 to 2.3). Subsequent studies have revealed a homozygous DUOX1 mutation (c.1823-1G>C) resulting in aberrant splicing and a protein truncation (p.Val607Aspfs*43), which segregates with CH in this kindred. Conclusion: This is a report of digenic mutations in DUOX1 and DUOX2 in association with CH, and we hypothesize that the inability of DUOX1 to compensate for DUOX2 deficiency in this kindred may underlie the severe CH phenotype. Our studies provide evidence for a digenic basis for CH and support the notion that oligogenicity as well as environmental modulators may underlie phenotypic variability in genetically ascertained CH.
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