{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T17:05:49Z","timestamp":1792083949650,"version":"4.4.0"},"reference-count":47,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T00:00:00Z","timestamp":1722643200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III (Madrid, Spain)","award":["CIBERER, U-712"],"award-info":[{"award-number":["CIBERER, U-712"]}]},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras","award":["CIBERER, U-712"],"award-info":[{"award-number":["CIBERER, U-712"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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\u2013phenotype 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\u2013phenotype correlation could not be identified; therefore, functional studies are necessary to confirm the pathogenicity of the variants.<\/jats:p>","DOI":"10.3390\/ijms25158473","type":"journal-article","created":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T15:45:22Z","timestamp":1722872722000},"page":"8473","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype\u2013Phenotype Correlation"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1704-3413","authenticated-orcid":false,"given":"Noelia","family":"Baz-Red\u00f3n","sequence":"first","affiliation":[{"name":"Growth and Development Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Antol\u00edn","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Medicine Genetics Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Clemente","sequence":"additional","affiliation":[{"name":"Growth and Development Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Pediatric Endocrinology Section, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Aut\u00f2noma de Barcelona, 08193 Bellaterra, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadna","family":"Campos","sequence":"additional","affiliation":[{"name":"Growth and Development Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Pediatric Endocrinology Section, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Aut\u00f2noma de Barcelona, 08193 Bellaterra, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8501-5364","authenticated-orcid":false,"given":"Eduard","family":"Mogas","sequence":"additional","affiliation":[{"name":"Growth and Development Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Pediatric Endocrinology Section, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Aut\u00f2noma de Barcelona, 08193 Bellaterra, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Fern\u00e1ndez-Cancio","sequence":"additional","affiliation":[{"name":"Growth and Development Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisenda","family":"Zafon","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Medicine Genetics Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Garc\u00eda-Arum\u00ed","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"},{"name":"Medicine Genetics Group, Vall d\u2019Hebron Research Institute (VHIR), Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Soler","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Section, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0550-4665","authenticated-orcid":false,"given":"N\u00faria","family":"Gonz\u00e1lez-Llorens","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Section, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5256-3743","authenticated-orcid":false,"given":"Cristina","family":"Aguilar-Riera","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Section, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4863-8201","authenticated-orcid":false,"given":"N\u00faria","family":"Camats-Tarruella","sequence":"additional","affiliation":[{"name":"Growth and Development Group, Vall 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