Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter.

ABSTRACT: Mutations in the dual oxidase 2 gene (DUOX2) impair hydrogen peroxide (H₂O₂) production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism (CH) with goiter. In this study, we identified DUOX2 mutations that were causative for CH and explored the effects of these mutations on DUOX2 function. Blood samples were collected from 10 infants born with CH and goiter to unrelated parents. We extracted genomic DNA and sequenced all exons by polymerase chain reaction direct sequencing. The effects of DUOX2 mutations were characterized by H₂O₂ production assays and cycloheximide (CHX) chase experiments. Sequence analysis revealed one novel DUOX2 mutation

SUBMITTER: Liu S 

PROVIDER: S-EPMC5796979 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature