Patients with Thyroid Dyshormonogenesis and DUOX2 Variants : Molecular and Clinical Description and Genotype-Phenotype Correlation
Baz-Redón, Noelia (Vall d'Hebron Institut de Recerca (VHIR))
Antolín, María (Vall d'Hebron Institut de Recerca (VHIR))
Clemente, Maria (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Campos-Martorell, Ariadna (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)
Mogas Viñals, Eduard (Vall d'Hebron Institut de Recerca (VHIR))
Fernández Cancio, Mónica (Vall d'Hebron Institut de Recerca (VHIR))
Zafon, Elisenda (Vall d'Hebron Institut de Recerca (VHIR))
García Arumí, Elena (Vall d'Hebron Institut de Recerca (VHIR))
Soler, Laura (Hospital Universitari Vall d'Hebron)
González-Llorens, Núria (Hospital Universitari Vall d'Hebron)
Aguilar-Riera, Cristina (Hospital Universitari Vall d'Hebron)
Camats Tarruella, Núria (Vall d'Hebron Institut de Recerca (VHIR))
Yeste Fernández, Diego (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública)

Data:	2024
Resum:	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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Congenital hypothyroidism ; CH ; Thyroid dyshormonogenesis ; Dual oxidase 2 ; DUOX2 ; Phenotypic variability
Publicat a:	International journal of molecular sciences, Vol. 25 Núm. 15 (August 2024) , ISSN 1422-0067

DOI: 10.3390/ijms25158473
PMID: 39126042

14 p, 660.1 KB

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