Transcriptome, methylome and genomic variations analysis of ectopic thyroid glands.

ABSTRACT:

Background

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is predominantly a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectopic thyroid tissue is the most common (up to 80%). Germinal mutations in the thyroid-related transcription factors NKX2.1, FOXE1, PAX-8, and NKX2.5 have been identified in only 3% of patients with sporadic CHTD. Moreover, a survey of monozygotic twins yielded a discordance rate of 92%, suggesting that somatic events, genetic or epigenetic, probably play an important role in the etiology of CHTD.

Methodology/principal findings

To assess the role of somatic genetic or epigenetic processes in CHTD, we analyzed gene expression, genome-

SUBMITTER: Abu-Khudir R 

PROVIDER: S-EPMC2955549 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature