Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Biomedical Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9434 Online ISSN: 2049-9442
Journal Cover
February-2025 Volume 22 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
February-2025 Volume 22 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML

  • Supplementary Files
    • Supplementary_Data.pdf
Article Open Access

Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population

  • Authors:
    • Xiang Huang
    • Qiaoyi Shao
    • Shi Weng
    • Wenfang Chen
    • Weixi Yuan
    • Jiayu Tan
    • Xuexi Yang
    • Xi Su
  • View Affiliations / Copyright

    Affiliations: Newborn Screening Center, Foshan Women and Children Hospital, Foshan, Guangdong 528000, P.R. China, Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China, Emergency Department, Foshan Women and Children Hospital, Foshan, Guangdong 528000, P.R. China
    Copyright: © Huang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 30
    |
    Published online on: December 9, 2024
       https://doi.org/10.3892/br.2024.1908
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China. A total of 105 unrelated patients with CH and 138 controls from a neonatal screening program in Foshan, China were selected. A multiplex PCR amplification‑based capture panel was performed which targeted the exon regions of 30 CH‑related genes. Next‑generation sequencing data were processed using an in‑house bioinformatics system. A total of 91 variants distributed across 16 genes were identified in 74.29% (78/105) of the patients, of which 16 were novel variants and 75 were known variants. The most frequently mutated gene was DOUX2, followed by TG, TSHR and TPO. Specifically, DUOX2 variants p.Lys530Ter, p.Arg683Leu, p.Arg1110Gln, and IVS28 + 1G>T were highly recurrent in the cohort of the present study. Bi‑allelic variants in DUOX2, TSHR and TPO were identified in 24.76% (26/105) of the patients. Monoallelic variants were identified in 28.57% (30/105) of the patients. Oligogenic variants were identified in 19.05% (20/105) of the patients. The most common variant combinations of oligogenic variants were DUOX2 and TG, and DUOX2 and SLC26A4. In addition, 2 patients harbored tri‑allelic and tetra‑allelic variants in DUOX2, respectively. In conclusion, DUOX2, TG, TSHR and TPO variants were the most common genetic defects in patients with CH in the neonatal population of Foshan. Specifically, biallelic DUOX2 variants were highly prevalent in the cohort. Further, the investigation provided a variant spectrum of CH‑related genes and identified novel variants, which may allow for an improved understanding of the underlying genetic etiology of CH and provide evidence for further molecular epidemiological investigations that can guide preventive and therapeutic programs.
View Figures

Figure 1

View References

1 

Rastogi MV and LaFranchi SH: Congenital hypothyroidism. Orphanet J Rare Dis. 5(17)2010.PubMed/NCBI View Article : Google Scholar

2 

Yao Y, Deng K, Zhu J, Xiang L, Yuan X, Li Q, Liu L and Xu W: Increased incidence of congenital hypothyroidism in China: An analysis of 119 million screened newborns. Eur J Pediatr. 182:4477–4486. 2023.PubMed/NCBI View Article : Google Scholar

3 

Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G and Persani L: A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol (Oxf). 71:739–745. 2009.PubMed/NCBI View Article : Google Scholar

4 

Mitrovic K, Vukovic R, Milenkovic T, Todorovic S, Radivojcevic J and Zdravkovic D: Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia. Eur J Pediatr. 175:253–259. 2016.PubMed/NCBI View Article : Google Scholar

5 

Liu L, He W, Zhu J, Deng K, Tan H, Xiang L, Yuan X, Li Q, Huang M, Guo Y, et al: Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: A systematic review and meta-analysis. Eur J Pediatr. 182:2957–2965. 2023.PubMed/NCBI View Article : Google Scholar

6 

Stoupa A, Kariyawasam D, Carré A and Polak M: Update of thyroid developmental genes. Endocrinol Metab Clin North Am. 45:243–254. 2016.PubMed/NCBI View Article : Google Scholar

7 

Szinnai G: Clinical genetics of congenital hypothyroidism. In: Szinnai G (ed). Endocrine Development. Vol. 26. S. Karger AG, pp60-78, 2014.

8 

Grasberger H and Refetoff S: Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr. 23:421–428. 2011.PubMed/NCBI View Article : Google Scholar

9 

Peters C, Van Trotsenburg ASP and Schoenmakers N: Diagnosis of endocrine disease: Congenital hypothyroidism: Update and perspectives. Eur J Endocrinol. 179:R297–R317. 2018.PubMed/NCBI View Article : Google Scholar

10 

Castanet M, Lyonnet S, Bonaïti-Pellié C, Polak M, Czernichow P and Léger J: Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism. N Engl J Med. 343:441–442. 2000.PubMed/NCBI View Article : Google Scholar

11 

Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Polak M and Czernichow P: Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab. 87:575–580. 2002.PubMed/NCBI View Article : Google Scholar

12 

Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P and Léger J: AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant). Nineteen years of national screening for congenital hypothyroidism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab. 86:2009–2014. 2001.PubMed/NCBI View Article : Google Scholar

13 

Schoenmakers N, Alatzoglou KS, Chatterjee VK and Dattani MT: Recent advances in central congenital hypothyroidism. J Endocrinol. 227:R51–R71. 2015.PubMed/NCBI View Article : Google Scholar

14 

Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW and Ki CS: Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. Clin Endocrinol (Oxf). 75:715–721. 2011.PubMed/NCBI View Article : Google Scholar

15 

Löf C, Patyra K, Kuulasmaa T, Vangipurapu J, Undeutsch H, Jaeschke H, Pajunen T, Kero A, Krude H, Biebermann H, et al: Detection of novel gene variants associated with congenital hypothyroidism in a finnish patient cohort. Thyroid. 26:1215–1224. 2016.PubMed/NCBI View Article : Google Scholar

16 

De Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, et al: A frequent oligogenic involvement in congenital hypothyroidism. Hum Mol Genet. 26:2507–2514. 2017.PubMed/NCBI View Article : Google Scholar

17 

Fu C, Zhang S, Su J, Luo S, Zheng H, Wang J, Qin H, Chen Y, Shen Y, Hu X, et al: Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. J Endocrinol Invest. 38:1219–1224. 2015.PubMed/NCBI View Article : Google Scholar

18 

Jiang H, Wu J, Ke S, Hu Y, Fei A, Zhen Y, Yu J and Zhu K: High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. Eur J Med Genet. 59:526–531. 2016.PubMed/NCBI View Article : Google Scholar

19 

Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, et al: The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. Eur J Endocrinol. 178:623–633. 2018.PubMed/NCBI View Article : Google Scholar

20 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar

21 

Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H and Takeuchi Y: Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab. 93:4261–4267. 2008.PubMed/NCBI View Article : Google Scholar

22 

Ohye H, Fukata S, Hishinuma A, Kudo T, Nishihara E, Ito M, Kubota S, Amino N, Ieiri T, Kuma K and Miyauchi A: A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. Thyroid. 18:561–566. 2008.PubMed/NCBI View Article : Google Scholar

23 

Chen X, Kong X, Zhu J, Zhang T, Li Y, Ding G and Wang H: Mutational spectrum analysis of seven genes associated with thyroid dyshormonogenesis. Int J Endocrinol. 2018(8986475)2018.PubMed/NCBI View Article : Google Scholar

24 

Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M and Takeuchi Y: Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. Eur J Endocrinol. 174:453–463. 2016.PubMed/NCBI View Article : Google Scholar

25 

Wang F, Lu K, Yang Z, Zhang S, Lu W, Zhang L, Liu S and Yan S: Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes. Clin Endocrinol (Oxf). 81:452–457. 2014.PubMed/NCBI View Article : Google Scholar

26 

Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T and Ris-Stalpers C: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med. 347:95–102. 2002.PubMed/NCBI View Article : Google Scholar

27 

Wang F, Zang Y, Li M, Liu W, Wang Y, Yu X, Li H, Wang F and Liu S: DUOX2 and DUOXA2 variants confer susceptibility to thyroid dysgenesis and gland-in-situ with congenital hypothyroidism. Front Endocrinol (Lausanne). 11(237)2020.PubMed/NCBI View Article : Google Scholar

28 

Tan M, Huang Y, Jiang X, Li P, Tang C, Jia X, Chen Q, Chen W, Sheng H, Feng Y, et al: The prevalence, clinical, and molecular characteristics of congenital hypothyroidism caused by DUOX2 mutations: A population-based cohort study in Guangzhou. Horm Metab Res. 48:581–588. 2016.PubMed/NCBI View Article : Google Scholar

29 

Muzza M, Rabbiosi S, Vigone MC, Zamproni I, Cirello V, Maffini MA, Maruca K, Schoenmakers N, Beccaria L, Gallo F, et al: The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. J Clin Endocrinol Metab. 99:E544–E553. 2014.PubMed/NCBI View Article : Google Scholar

30 

Wang F, Xiaole L, Ma R, Zhao D and Liu S: Dual oxidase system genes defects in children with congenital hypothyroidism. Endocrinology. 162(bqab043)2021.PubMed/NCBI View Article : Google Scholar

31 

Ye Z, Huang Y, Zheng C, Wang Y, Lu J, Wang H, Wu B, Wang X, Zhang R and Wang J: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China. Genet Med. 21:2224–2230. 2019.PubMed/NCBI View Article : Google Scholar

32 

Fu C, Wang J, Luo S, Yang Q, Li Q, Zheng H, Hu X, Su J, Zhang S, Chen R, et al: Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. Clin Chim Acta. 462:127–132. 2016.PubMed/NCBI View Article : Google Scholar

33 

Park KJ, Park HK, Kim YJ, Lee KR, Park JH, Park JH, Park HD, Lee SY and Kim JW: DUOX2 mutations are frequently associated with congenital hypothyroidism in the Korean population. Ann Lab Med. 36:145–153. 2016.PubMed/NCBI View Article : Google Scholar

34 

Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L and Weber G: Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. J Clin Endocrinol Metab. 93:605–610. 2008.PubMed/NCBI View Article : Google Scholar

35 

Yi RH, Zhu WB, Yang LY, Lan L, Chen Y, Zhou JF, Wang J and Su YQ: A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. Int J Mol Med. 31:467–470. 2013.PubMed/NCBI View Article : Google Scholar

36 

Awata T, Yamashita H, Kurihara S, Morita-Ohkubo T, Miyashita Y, Katayama S, Kawasaki E, Tanaka S, Ikegami H, Maruyama T, et al: A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes. Biochem Biophys Res Commun. 437:521–525. 2013.PubMed/NCBI View Article : Google Scholar

37 

Lu YC, Huang LY, Yan JM, Zhang Y and Li DZ: Whole-exome sequencing identifies compound heterozygous LHX4 mutations in a fetus with early-onset growth restriction. Eur J Obstet Gynecol Reprod Biol. 211:225–227. 2017.PubMed/NCBI View Article : Google Scholar

38 

Li Q, Zhu QW, Yuan YY, Huang SS, Han DY, Huang DL and Dai P: Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. J Transl Med. 10(225)2012.PubMed/NCBI View Article : Google Scholar

39 

Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M and Dai P: Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. J Transl Med. 9(167)2011.PubMed/NCBI View Article : Google Scholar

40 

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, et al: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet. 40:242–248. 2003.PubMed/NCBI View Article : Google Scholar

41 

Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N and Xia J: Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: A unique SLC26A4 mutation spectrum. J Hum Genet. 52:492–497. 2007.PubMed/NCBI View Article : Google Scholar

42 

Yang R, Lu Y, Yang C, Wu X, Feng J, Zhu L, Shu Q and Jiang P: Case report: Expanding the digenic variants involved in thyroid hormone synthesis-10 new cases of congenital hypothyroidism and a literature review. Front Genet. 12(694683)2021.PubMed/NCBI View Article : Google Scholar

43 

Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL and Lin CY: High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. J Clin Endocrinol Metab. 87:4208–4212. 2002.PubMed/NCBI View Article : Google Scholar

44 

Makretskaya N, Bezlepkina O, Kolodkina A, Kiyaev A, Vasilyev EV, Petrov V, Kalinenkova S, Malievsky O, Dedov II and Tiulpakov A: High frequency of mutations in ‘dyshormonogenesis genes’ in severe congenital hypothyroidism. PLoS One. 13(e0204323)2018.PubMed/NCBI View Article : Google Scholar

45 

Zhang RJ, Sun F, Chen F, Fang Y, Yan CY, Zhang CR, Ying YX, Wang Z, Zhang CX, Wu FY, et al: The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism. Mol Cell Endocrinol. 506(110761)2020.PubMed/NCBI View Article : Google Scholar

46 

Wang H, Kong X, Pei Y, Cui X, Zhu Y, He Z, Wang Y, Zhang L, Zhuo L, Chen C and Yan X: Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism. Mol Med Rep. 22:297–309. 2020.PubMed/NCBI View Article : Google Scholar

47 

Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M and Hasegawa T: TSHR mutations as a cause of congenital hypothyroidism in Japan: A population-based genetic epidemiology study. J Clin Endocrinol Metab. 94:1317–1323. 2009.PubMed/NCBI View Article : Google Scholar

48 

Long W, Lu G, Zhou W, Yang Y, Zhang B, Zhou H, Jiang L and Yu B: Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocr J. 65:1019–1028. 2018.PubMed/NCBI View Article : Google Scholar

49 

Nagashima T, Murakami M, Onigata K, Morimura T, Nagashima K, Mori M and Morikawa A: Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. Thyroid. 11:551–559. 2001.PubMed/NCBI View Article : Google Scholar

50 

Jin HY, Heo SH, Kim YM, Kim GH, Choi JH, Lee BH and Yoo HW: High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. Horm Res Paediatr. 82:252–260. 2014.PubMed/NCBI View Article : Google Scholar

51 

Targovnik HM, Citterio CE and Rivolta CM: Iodide handling disorders (NIS, TPO, TG, IYD). Best Pract Res Clin Endocrinol Metab. 31:195–212. 2017.PubMed/NCBI View Article : Google Scholar

52 

Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, Kawada Y, Mushimoto Y, Ohkubo K, Kinjo S, et al: Genotype-phenotype correlations in 30 Japanese patients with congenital hypothyroidism attributable to TG defects. J Clin Endocrinol Metab. 109:2358–2365. 2024.PubMed/NCBI View Article : Google Scholar

53 

Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, Li C, Luo J, Su J, et al: Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. Mol Cell Endocrinol. 423:60–66. 2016.PubMed/NCBI View Article : Google Scholar

54 

Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, Al-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, et al: Molecular analysis of congenital hypothyroidism in Saudi Arabia: SLC26A7 mutation is a novel defect in thyroid dyshormonogenesis. J Clin Endocrinol Metab. 103:1889–1898. 2018.PubMed/NCBI View Article : Google Scholar

55 

Zhang RJ, Yang GL, Cheng F, Sun F, Fang Y, Zhang CX, Wang Z, Wu FY, Zhang JX, Zhao SX, et al: The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism. Clin Endocrinol (Oxf). 96:617–626. 2022.PubMed/NCBI View Article : Google Scholar

56 

Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C and Battelino T: High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. Eur J Endocrinol. 156:511–519. 2007.PubMed/NCBI View Article : Google Scholar

57 

Lee CC, Harun F, Jalaludin MY, Heh CH, Othman R and Junit SM: Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis. BMJ Open. 5(e006121)2015.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Huang X, Shao Q, Weng S, Chen W, Yuan W, Tan J, Yang X and Su X: Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population. Biomed Rep 22: 30, 2025.
APA
Huang, X., Shao, Q., Weng, S., Chen, W., Yuan, W., Tan, J. ... Su, X. (2025). Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population. Biomedical Reports, 22, 30. https://doi.org/10.3892/br.2024.1908
MLA
Huang, X., Shao, Q., Weng, S., Chen, W., Yuan, W., Tan, J., Yang, X., Su, X."Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population". Biomedical Reports 22.2 (2025): 30.
Chicago
Huang, X., Shao, Q., Weng, S., Chen, W., Yuan, W., Tan, J., Yang, X., Su, X."Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population". Biomedical Reports 22, no. 2 (2025): 30. https://doi.org/10.3892/br.2024.1908
Copy and paste a formatted citation
x
Spandidos Publications style
Huang X, Shao Q, Weng S, Chen W, Yuan W, Tan J, Yang X and Su X: Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population. Biomed Rep 22: 30, 2025.
APA
Huang, X., Shao, Q., Weng, S., Chen, W., Yuan, W., Tan, J. ... Su, X. (2025). Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population. Biomedical Reports, 22, 30. https://doi.org/10.3892/br.2024.1908
MLA
Huang, X., Shao, Q., Weng, S., Chen, W., Yuan, W., Tan, J., Yang, X., Su, X."Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population". Biomedical Reports 22.2 (2025): 30.
Chicago
Huang, X., Shao, Q., Weng, S., Chen, W., Yuan, W., Tan, J., Yang, X., Su, X."Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population". Biomedical Reports 22, no. 2 (2025): 30. https://doi.org/10.3892/br.2024.1908
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team