Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.

ABSTRACT:

Background

The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). Though studied in a few regions with different ethnicities, the incidence of PAX8 mutations varied, even among Chinese cohorts in different regions. This study aimed to identify and characterize PAX8 mutations and explore the prevalence of its mutations in another cohort of CH.

Methods

The 105 unrelated Chinese patients with CH were collected from four major hospitals. Exomes of the 105 samples were sequenced by Hiseq 2000 platform to identify mutations of PAX8 on genomic DNAs extracted from peripheral blood samples. Luciferase reporter assays were used to assess the effects of mutations on

SUBMITTER: Qian F 

PROVIDER: S-EPMC6629355 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature