ArticleJournal of endocrinological investigation2015
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.
Article in Journal of endocrinological investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.International journal of neonatal screening · 2025Article
- Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.Biomedical reports · 2025Article
- Clinical Insight into Congenital Hypothyroidism Among Children.Children (Basel, Switzerland) · 2025Review
- Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.International journal of neonatal screening · 2024Article
- Patients with Thyroid Dyshormonogenesis andInternational journal of molecular sciences · 2024Article
- Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Predictive factors for the diagnosis of permanent congenital hypothyroidism and its temporal changes in Sergipe, Brazil - A real-life retrospective study.Archives of endocrinology and metabolism · 2023Article
- Combined genetic screening and traditional newborn screening to improve the screening efficiency of congenital hypothyroidism.Frontiers in pediatrics · 2023Article
- Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.Journal of clinical medicine · 2022Article
- Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards.Global medical genetics · 2021Article
- Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.Endocrine · 2021Article
- Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.Annals of translational medicine · 2020Article
- Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Molecular medicine reports · 2020Article
- Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.International journal of endocrinology · 2020Article
- Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor.Scientific reports · 2018Article
- The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.European journal of endocrinology · 2018Article
- [Advances in genetic research of congenital hypothyroidism in China].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.Frontiers in genetics · 2018Article
- Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.International journal of endocrinology · 2018Article
- Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.The Journal of clinical endocrinology and metabolism · 2017Article
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15 authors at 1 institution in 1 country.
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Abstract
backgroundCongenital hypothyroidism (CH) is the most common neonatal endocrine disorder in infancy. Dual oxidase 2 gene (DUOX2) mutations have been reported to be one of the leading genetic causes of CH.
aimThe aim of this study was to screen for DUOX2 gene mutations among CH patients in the Guangxi Zhuang Autonomous Region of China and to define the relationships between DUOX2 genotypes and clinical phenotypes. MATERIALS AND
methodsBlood samples were collected from 45 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the DUOX2 gene together with their exon-intron boundaries were screened by Sanger sequencing.
resultsSequencing analysis of DUOX2 in 45 CH patients revealed ten different variants in thirteen individuals. The variants included five known mutations, namely c.3329G>A (p.R1110Q), c.1588A>T (p.K530X), c.2635G>A (p.E879K), c.2524C>T (p.R842X) and c.4027G>T (p.L1343F), and one novel frame shift variant c.3340delC (p.L1114SfsX56), as well as four novel missense variants c.903G>T (p.W301C), c.2048G>T (p.R683L), c.1736T>C (p.L579P) and c.3413C>A (p.A1138D). The variant p.K530X is highly recurrent in our patient cohort but the clinical phenotypes vary greatly among those carrying this variant. Most patients with monoallelic or biallelic DUOX2 pathogenic variants turned out to be cases of transient congenital hypothyroidism (TCH), while three patients with triallelic DUOX2 pathogenic variants were associated with permanent congenital hypothyroidism (PCH).
conclusionsThe prevalence of DUOX2 pathogenic variants was high (29 %) among patients with CH in Guangxi, China. Monoallelic and biallelic DUOX2 pathogenic variants were mainly associated with TCH, while triallelic DUOX2 pathogenic variants were associated with PCH. Our study expanded the DUOX2 mutation spectrum, and functional studies of the novel mutations need to be conducted in the future.
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