A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis.

ABSTRACT:

Background

Thyroid dysgenesis (TD) is the most frequent cause of congenital hypothyroidism (CH), but its pathogenesis remains unclear. As a thyroid transcription factor, paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development.

Aim

To screen PAX8 mutations and characterize the features of these mutations in Chinese TD patients.

Materials and methods

Blood samples were collected from 63 TD patients in Shandong Province, China, and genomic DNA was extracted from peripheral blood leukocytes. Exon 3~4 of PAX8 were analyzed by PCR and direct sequencing.

Results

Direct sequencing of PAX8 revealed a heterozygous missense mutation (c.155G/C, P.Arg52Pro) in one child with agenesis. Genetic screening of the child's family revealed t

SUBMITTER: Zou H 

PROVIDER: S-EPMC4637687 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature