Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland

Tonacchera, Massimo; De Marco, G; Agretti, P; Montanelli, L; Di Cosmo, C; Freitas Ferreira Ac,; Dimida, A; Ferrarini, E; Ramos, He; Ceccarelli, C; Brozzi, F; Pinchera, A; Vitti, Paolo

doi:10.1210/jc.2009-0426

Abstract CONTEXT: Some cases of congenital hypothyroidism (CH) are associated with a gland of normal size. OBJECTIVE: To explore the cause of organification defect in one child with CH and a eutopic thyroid gland, genetic analyses of TPO, DUOX2, and DUOXA2 genes were performed. PATIENT: One child with CH, a eutopic thyroid gland, and a partial organification defect was shown after (123)I scintigraphy and perchlorate test. METHODS: In the child with the organification defect, TPO, DUOX2, and DUOXA2 genes were analyzed. The functional activity of the DUOX2 mutants was studied after expression in eukaryotic cells. RESULTS: No TPO or DUOXA2 gene mutations were identified. Direct sequencing of the DUOX2 gene revealed a compound heterozygous genotype for S911L and C1052Y substitutions. S911L and C1052Y caused a partial defect in H(2)O(2) production after transient expression in HeLa cells. CONCLUSIONS: We performed a genetic analysis in one child with CH and a eutopic thyroid gland. Two new mutations in DUOX2 gene responsible for the partial deficit in the organification process were

Autori interni:	TONACCHERA, MASSIMO DE MARCO G AGRETTI P MONTANELLI L DI COSMO C FREITAS FERREIRA AC DIMIDA A FERRARINI E RAMOS HE CECCARELLI C BROZZI F PINCHERA A VITTI, PAOLO mostra contributor esterni nascondi contributor esterni
Autori:	TONACCHERA M; DE MARCO G; AGRETTI P; MONTANELLI L; DI COSMO C; FREITAS FERREIRA AC; DIMIDA A; FERRARINI E; RAMOS HE; CECCARELLI C; BROZZI F; PINCHERA A; VITTI P
Titolo:	Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland
Anno del prodotto:	2009
Digital Object Identifier (DOI):	10.1210/jc.2009-0426
Appare nelle tipologie:	1.1 Articolo in rivista

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http://hdl.handle.net/11568/196427

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