ArticleThe Journal of clinical endocrinology and metabolism2011
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
Article in The Journal of clinical endocrinology and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 62 citations in OpenAlex.
- 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
- Exploring the potential regulation of DUOX in thyroid hormone‑autophagy signaling via IGF‑1 in the skeletal muscle (Review).Biomedical reports · 2025Review
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
- Protective Effects of Melatonin against Carcinogen-Induced Oxidative Damage in the Thyroid.Cancers · 2024Review
- The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.Genes · 2023Article
- A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang.Pharmacogenomics and personalized medicine · 2023Article
- Identification of the causative gene of a transparent phenotype of juvenile red sea bream Pagrus major.Heredity · 2021Article
- Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.Frontiers in endocrinology · 2021Article
- Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.Frontiers in endocrinology · 2021Article
- Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene.Annals of pediatric endocrinology & metabolism · 2020Article
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- Identification of Two Missense Mutations inFrontiers in endocrinology · 2019Article
- Congenital hypothyroidism in different cities of the Isfahan province: A descriptive retrospective study.Journal of education and health promotion · 2019Article
- Alteration in Prooxidant-antioxidant Balance Associated with Selenium Concentration in Patients with Congenital Hypothyroidism.Journal of medical biochemistry · 2018Article
- Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.Yonsei medical journal · 2017Article
- Defects of Thyroid Hormone Synthesis and Action.Endocrinology and metabolism clinics of North America · 2017Review
- Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.The Journal of clinical endocrinology and metabolism · 2016Article
- A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.Journal of clinical research in pediatric endocrinology · 2016Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
contextDual oxidases (DUOX1 and DUOX2) play a crucial role in the generation of hydrogen peroxide required in the oxidation of iodide and the synthesis of thyroid hormone. Heterodimerization with specific maturation factors (DUOXA1 and DUOXA2) is essential for the maturation and function of the DUOX enzyme complexes. Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH.
objectiveWe now report an infant with transient CH due to a complex genetic alteration of the DUOX/DUOXA system.
resultsOur patient was born to euthyroid nonconsanguineous parents and presented with an elevated TSH and enlarged thyroid gland at neonatal screening. Genetic analysis revealed a missense mutation (C189R) on the maternal DUOXA2 allele. The mutant DUOXA2 protein showed complete loss-of-function in reconstituting DUOX2 in vitro. The apparent C189R homozygosity of the proband in the absence of the same mutation in the father led to detailed gene mapping, revealing an approximately 43-kb pair deletion encompassing DUOX2, DUOXA1, and DUOXA2. Thus, in addition to being deficient in DUOXA2, the proband lacks one allele of DUOX2 and DUOXA1 but has two functioning DUOX1 alleles.
conclusionThe transient CH in the presence of only one functional maturation factor allele indicates a high level of functional redundancy in the DUOX/DUOXA system.
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