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J Clin Endocrinol Metab. 2009 Nov;94(11):4309-14. doi: 10.1210/jc.2009-0426. Epub 2009 Sep 29.

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.

Author information

1
Dipartimento di Endocrinologia e Metabolismo, Centro Eccellenza AmbiSEN, Università di Pisa, 56124 Pisa, Italy. mtonacchera@hotmail.com

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 identified.

PMID:
19789206
DOI:
10.1210/jc.2009-0426
[Indexed for MEDLINE]

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