Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.

ABSTRACT:

Context

Dual oxidase 2 (DUOX2) is the catalytic core of the H(2)O(2) generator crucial for the iodination of thyroglobulin in thyroid hormone synthesis. DUOX2 deficiency produces congenital hypothyroidism (CH) in humans and mice. We recently cloned a novel gene, the product of which (dual oxidase maturation factor 2; DUOXA2) is required to express DUOX2 enzymatic activity.

Objective

Our objective was to identify DUOXA2 mutations as a novel cause of CH due to dyshormonogenesis.

Patients

Subjects included 11 CH patients with partial iodine organification defect but negative for other known genetic causes of partial iodine organification defect.

Results

One Chinese patient born to nonconsanguineous parents was homozygous for a nonsense mutation (p.Y246X), producin

SUBMITTER: Zamproni I 

PROVIDER: S-EPMC2243227 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature