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Dual Oxidase 2 Deficiency

MedGen UID:
887085
•Concept ID:
C4055115
•
Disease or Syndrome

Definition

Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDual Oxidase 2 Deficiency

Professional guidelines

PubMed

Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
Zhou D, Yang R, Huang X, Huang X, Yang X, Mao H, Yang J, Zhao Z
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Dec 16;52(6):683-692. doi: 10.3724/zdxbyxb-2023-0473. PMID: 38105685Free PMC Article

Recent clinical studies

Etiology

Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
DUOX2 variants associate with preclinical disturbances in microbiota-immune homeostasis and increased inflammatory bowel disease risk.
Grasberger H, Magis AT, Sheng E, Conomos MP, Zhang M, Garzotto LS, Hou G, Bishu S, Nagao-Kitamoto H, El-Zaatari M, Kitamoto S, Kamada N, Stidham RW, Akiba Y, Kaunitz J, Haberman Y, Kugathasan S, Denson LA, Omenn GS, Kao JY
J Clin Invest 2021 May 3;131(9) doi: 10.1172/JCI141676. PMID: 33651715Free PMC Article
Lysyl Oxidase 3 Is a Dual-Specificity Enzyme Involved in STAT3 Deacetylation and Deacetylimination Modulation.
Ma L, Huang C, Wang XJ, Xin DE, Wang LS, Zou QC, Zhang YS, Tan MD, Wang YM, Zhao TC, Chatterjee D, Altura RA, Wang C, Xu YS, Yang JH, Fan YS, Han BH, Si J, Zhang X, Cheng J, Chang Z, Chin YE
Mol Cell 2017 Jan 19;65(2):296-309. Epub 2017 Jan 5 doi: 10.1016/j.molcel.2016.12.002. PMID: 28065600
Genetic disorders coupled to ROS deficiency.
O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-156. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article
The role of cytosolic phospholipase A2-alfa in regulation of phagocytic functions.
Levy R
Biochim Biophys Acta 2006 Nov;1761(11):1323-34. Epub 2006 Sep 15 doi: 10.1016/j.bbalip.2006.09.004. PMID: 17046321

Diagnosis

Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
Aycan Z, Cangul H, Muzza M, Bas VN, Fugazzola L, Chatterjee VK, Persani L, Schoenmakers N
J Clin Endocrinol Metab 2017 Sep 1;102(9):3085-3090. doi: 10.1210/jc.2017-00529. PMID: 28633507Free PMC Article
Identification of DUOX1-dependent redox signaling through protein S-glutathionylation in airway epithelial cells.
Hristova M, Veith C, Habibovic A, Lam YW, Deng B, Geiszt M, Janssen-Heininger YM, van der Vliet A
Redox Biol 2014;2:436-46. Epub 2014 Jan 15 doi: 10.1016/j.redox.2013.12.030. PMID: 24624333Free PMC Article

Therapy

Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
Melatonin restores neutrophil functions and prevents apoptosis amid dysfunctional glutathione redox system.
NaveenKumar SK, Hemshekhar M, Jagadish S, Manikanta K, Vishalakshi GJ, Kemparaju K, Girish KS
J Pineal Res 2020 Oct;69(3):e12676. Epub 2020 Aug 18 doi: 10.1111/jpi.12676. PMID: 32597503
Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.
Dufort G, Larrivée-Vanier S, Eugène D, De Deken X, Seebauer B, Heinimann K, Lévesque S, Gravel S, Szinnai G, Van Vliet G, Deladoëy J
Thyroid 2019 Jul;29(7):1018-1022. Epub 2019 May 31 doi: 10.1089/thy.2018.0461. PMID: 31030636
Subclinical hypothyroidism in childhood - current knowledge and open issues.
Salerno M, Capalbo D, Cerbone M, De Luca F
Nat Rev Endocrinol 2016 Dec;12(12):734-746. Epub 2016 Jul 1 doi: 10.1038/nrendo.2016.100. PMID: 27364598
DUOX enzyme activity promotes AKT signalling in prostate cancer cells.
Pettigrew CA, Clerkin JS, Cotter TG
Anticancer Res 2012 Dec;32(12):5175-81. PMID: 23225414

Prognosis

Dual oxidase 1 is dispensable during Mycobacterium tuberculosis infection in mice.
Gupta T, Sarr D, Fantone K, Ashtiwi NM, Sakamoto K, Quinn FD, Rada B
Front Immunol 2023;14:1044703. Epub 2023 Mar 3 doi: 10.3389/fimmu.2023.1044703. PMID: 36936954Free PMC Article
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE
J Clin Endocrinol Metab 2020 May 1;105(5):1564-72. doi: 10.1210/clinem/dgz297. PMID: 31867598Free PMC Article
Dysregulated Redox Regulation Contributes to Nuclear EGFR Localization and Pathogenicity in Lung Cancer.
Little AC, Hristova M, van Lith L, Schiffers C, Dustin CM, Habibovic A, Danyal K, Heppner DE, Lin MJ, van der Velden J, Janssen-Heininger YM, van der Vliet A
Sci Rep 2019 Mar 19;9(1):4844. doi: 10.1038/s41598-019-41395-8. PMID: 30890751Free PMC Article
Genetic disorders coupled to ROS deficiency.
O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-156. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article

Clinical prediction guides

Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Downregulation of epithelial DUOX1 in chronic obstructive pulmonary disease.
Schiffers C, van de Wetering C, Bauer RA, Habibovic A, Hristova M, Dustin CM, Lambrichts S, Vacek PM, Wouters EF, Reynaert NL, van der Vliet A
JCI Insight 2021 Jan 25;6(2) doi: 10.1172/jci.insight.142189. PMID: 33301419Free PMC Article
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Genetic disorders coupled to ROS deficiency.
O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-156. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article

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