Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation

Baz-Redón, Noelia; Antolín, María; Clemente, María; Campos, Ariadna; Mogas, Eduard; Fernández-Cancio, Mónica; Zafon, Elisenda; García-Arumí, Elena; Soler, Laura; González-Llorens, Núria; Aguilar-Riera, Cristina; Camats-Tarruella, Núria; Yeste, Diego

doi:10.3390/ijms25158473

Open AccessCommunication

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation

by

Noelia Baz-Redón

^1,2,*

,

María Antolín

^3,4,

María Clemente

^1,2,5,6,

Ariadna Campos

^1,5,6,

Eduard Mogas

^1,5,6

,

Mónica Fernández-Cancio

^1,2,

Elisenda Zafon

^3,4,

Elena García-Arumí

^2,3,4,

Laura Soler

⁵,

Núria González-Llorens

⁵

,

Cristina Aguilar-Riera

⁵

,

Núria Camats-Tarruella

^1,2

and

Diego Yeste

^1,2,5,6

¹

Growth and Development Group, Vall d’Hebron Research Institute (VHIR), Hospital Universitari Vall d’Hebron, 08035 Barcelona, Spain

²

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain

³

Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d’Hebron, 08035 Barcelona, Spain

⁴

Medicine Genetics Group, Vall d’Hebron Research Institute (VHIR), Hospital Universitari Vall d’Hebron, 08035 Barcelona, Spain

⁵

Pediatric Endocrinology Section, Hospital Universitari Vall d’Hebron, 08035 Barcelona, Spain

⁶

Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain

^*

Author to whom correspondence should be addressed.

Int. J. Mol. Sci. 2024, 25(15), 8473; https://doi.org/10.3390/ijms25158473

Submission received: 5 July 2024 / Revised: 28 July 2024 / Accepted: 29 July 2024 / Published: 3 August 2024

(This article belongs to the Special Issue Thyroid Hormone and Molecular Endocrinology)

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Abstract

Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype–phenotype correlation in patients with THD and candidate variants in DUOX2. A total of 31 (19.38%) patients from the Catalan Neonatal Screening Program presented with variants in DUOX2 that could explain their phenotype. Fifteen (48.39%) patients were compound heterozygous, 10 (32.26%) heterozygous, and 4 (12.90%) homozygous. In addition, 8 (26.67%) of these patients presented variants in other genes. A total of 35 variants were described, 10 (28.57%) of these variants have not been previously reported in literature. The most frequent variant in our cohort was c.2895_2898del/p.(Phe966SerfsTer29), classified as pathogenic according to reported functional studies. The final diagnosis of this cohort was permanent THD in 21 patients and transient THD in 10, according to reevaluation and/or need for treatment with levothyroxine. A clear genotype–phenotype correlation could not be identified; therefore, functional studies are necessary to confirm the pathogenicity of the variants.

Keywords: congenital hypothyroidism; CH; thyroid dyshormonogenesis; dual oxidase 2; DUOX2; phenotypic variability

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MDPI and ACS Style

Baz-Redón, N.; Antolín, M.; Clemente, M.; Campos, A.; Mogas, E.; Fernández-Cancio, M.; Zafon, E.; García-Arumí, E.; Soler, L.; González-Llorens, N.; et al. Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation. Int. J. Mol. Sci. 2024, 25, 8473. https://doi.org/10.3390/ijms25158473

AMA Style

Baz-Redón N, Antolín M, Clemente M, Campos A, Mogas E, Fernández-Cancio M, Zafon E, García-Arumí E, Soler L, González-Llorens N, et al. Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation. International Journal of Molecular Sciences. 2024; 25(15):8473. https://doi.org/10.3390/ijms25158473

Chicago/Turabian Style

Baz-Redón, Noelia, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, and et al. 2024. "Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation" International Journal of Molecular Sciences 25, no. 15: 8473. https://doi.org/10.3390/ijms25158473

APA Style

Baz-Redón, N., Antolín, M., Clemente, M., Campos, A., Mogas, E., Fernández-Cancio, M., Zafon, E., García-Arumí, E., Soler, L., González-Llorens, N., Aguilar-Riera, C., Camats-Tarruella, N., & Yeste, D. (2024). Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation. International Journal of Molecular Sciences, 25(15), 8473. https://doi.org/10.3390/ijms25158473

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Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation

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