2014
DOI: 10.1159/000362235
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Abstract: Background/Aims: This study aimed to clarify the frequency, phenotypes, and molecular spectrum of DUOX2, TPO, TSHR, and TG mutations in patients with congenital hypothyroidism (CH) with enlarged or normal-sized eutopic thyroid glands. Methods: The study cohort included 43 subjects from 41 unrelated families who had CH with eutopic thyroid glands. Mutation analyses of DUOX2, TPO, and TSHR were performed. The functional capacities of novel missense variants of DUOX2 were verified by measuring H2O Show more

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Cited by 54 publications
(67 citation statements)
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“…(10,13,19). The locations of all DUOX2 mutations reported to date (8,13,14,15,16,19,20,21,22,23,24,25,26,27,28) For most patients, the L-thyroxine dose could be reduced by about 2-4 years of age, except for the twins in cases 10, 11 and 21. Twenty-one of the 24 patients were able to receive reduced doses of L-thyroxine.…”
Section: Clinical Course Of Patients With Biallelic Mutations In Duox2mentioning
confidence: 99%
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“…(10,13,19). The locations of all DUOX2 mutations reported to date (8,13,14,15,16,19,20,21,22,23,24,25,26,27,28) For most patients, the L-thyroxine dose could be reduced by about 2-4 years of age, except for the twins in cases 10, 11 and 21. Twenty-one of the 24 patients were able to receive reduced doses of L-thyroxine.…”
Section: Clinical Course Of Patients With Biallelic Mutations In Duox2mentioning
confidence: 99%
“…Recent reports have shown that a high proportion of CH cases are caused by mutations in hormone-producing enzymes, and DUOX2 mutations are one of the most frequent causes (13,14,15,16). DUOX2, which is also known as thyroid oxidase 2 (THOX2) (10,17), spans 6376 nucleotides on chromosome 15 and includes 33 exons.…”
mentioning
confidence: 99%
“…7 Este grupo de pacientes se presenta con glándula eutópica o, incluso, bocio neonatal. 4,5,8 Generalmente, la inactivación bialélica de los genes codificadores del NIS (sodium iodide symporter, transportador de iodo), de tiroperoxidasa o tiroglobulina son causa de HC permanente, pero se han descrito casos en los que se han encontrado defectos heterocigotas con el mismo fenotipo clínico. En ellos, se plantea la necesidad de completar el estudio molecular de los genes responsables de la síntesis tiroidea y no se descarta la posibilidad de afectación concomitante de genes distintos.…”
Section: Discussionunclassified
“…De hecho, se han encontrado pacientes con HC y defectos monoalélicos concomitantes del gen del receptor de TSH y tiroperoxidasa. 5 Con relación al sistema de generación de H 2 O 2 , la suposición inicial de que las mutaciones bialélicas de DUOX2 causaban HC permanente y las monoalélicas provocaban cuadros transitorios ha sido refutada por el hallazgo de mutaciones bialélicas de DUOX2 asociadas a HC transitorio y la observación de Jin y col., de dos pacientes con mutaciones monoalélicas de DUOX2 e hipotiroidismo permanente. 1,4,5 Confirmando la heterogeneidad clínica del cuadro, Ohye y col., en 2008, describieron un paciente homocigota para una mutación con pérdida de sentido de DUOX2 con hipotiroidismo grave y bocio de aparición en la adultez.…”
Section: Discussionunclassified
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