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Article

The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.

Annals of medicine - 1 Dec 2025

Du Jiani, Yang Yanling, Wei Ding, Wu Jiajun, Tian Chunping, Hu Qianqian, Bian Hongyan, Cheng Chen, Zhai Xiaoyan

Abstract excerpt

Background: Congenital hypothyroidism (CH) is a common metabolic disorder in children that can impact growth and neurodevelopment, particularly during infancy and early childhood. DUOXA2, a DUOX maturation factor, plays a crucial role in the maturation and activation of dual oxidase DUOX2 (a member of the NADPH oxidase family). DUOX2 can correctly migrate to the plasma membrane from the endoplasmic reticulum (ER)...

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Topics

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Share to Congenital Hypothyroidism
Share to Dual Oxidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Hydrogen Peroxide

Share to Infant, Newborn

Share to Membrane Proteins

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Source

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Identifiers

PMID: 39673194
DOI: 10.1080/07853890.2024.2440121
PMCID: PMC11648137

Genes

DUOXA2
DUOX2

Provenance

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

Related research

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The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.PMID 39673194Read ↗

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

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.Semantic 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 ↗

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.Semantic proximity Read ↗

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

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

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