Article
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
The Journal of clinical endocrinology and metabolism - 1 May 2011
Hulur Imge, Hermanns Pia, Nestoris Claudia, Heger Sabine, Refetoff Samuel, Pohlenz Joachim, Grasberger Helmut
Abstract excerpt
CONTEXT: Dual oxidases (DUOX1 and DUOX2) play a crucial role in the generation of hydrogen peroxide required in the oxidation of iodide and the synthesis of thyroid hormone. Heterodimerization with specific maturation factors (DUOXA1 and DUOXA2) is essential for the maturation and function of the DUOX enzyme complexes. Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.