Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.

ABSTRACT:

Objective

Based on mutations in PAX8 is associated with thyroid dysgenesis. We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population.

Methods

We screened 453 unrelated Chinese patients with CH from thyroid dysgenesis for PAX8 mutations by sequencing the whole coding regions of PAX8 on genomic DNA isolated from blood. Cell transfection assays using various vector constructs and induced mutagenesis as well as electrophoretic mobility shift assays were used to investigate the effects of selected mutations on the transcribing and binding activities of PAX8 at the promoters of target genes for thyroglobulin (TG) and thyroperoxidase (TPO).

Results

Five PAX8 mutations were found, yield

SUBMITTER: Liu S 

PROVIDER: S-EPMC5352434 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature