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Article

Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Sept 2017

Aycan Zehra, Cangul Hakan, Muzza Marina, Bas Veysel N, Fugazzola Laura, Chatterjee V Krishna, Persani Luca, Schoenmakers Nadia

Abstract excerpt

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.,...

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Source

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Identifiers

PMID: 28633507
DOI: 10.1210/jc.2017-00529
PMCID: PMC5587079

Genes

DUOX1
DUOX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.PMID 28633507Read ↗

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.Semantic proximity Read ↗

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.Semantic proximity Read ↗

Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.Semantic proximity Read ↗

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.Semantic proximity Read ↗

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.Semantic proximity Read ↗

The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.Semantic proximity Read ↗

New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.Semantic proximity Read ↗

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.Semantic proximity Read ↗

Clinical and molecular characteristics of congenital hypothyroidism with DUOX2 mutationsSemantic proximity Read ↗

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.Semantic proximity Read ↗

DUOXS defects: Genotype-phenotype correlations.Semantic proximity Read ↗

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.Semantic proximity Read ↗

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