Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism.

ABSTRACT:

Purpose

The elevated frequency of discordance for congenital hypothyroidism (CH) phenotype between monozygotic twins suggests the involvement of non-mendelian mechanisms. The aim of the study was to investigate the role of epigenetics in CH pathogenesis.

Methods

A genome-wide DNA methylation analysis was performed on the peripheral blood of 23 twin pairs (10 monozygotic and 13 dizygotic), 4 concordant and 19 discordant pairs for CH at birth.

Results

Differential methylation analysis did not show significant differences in methylation levels between CH cases and controls, but a different methylation status of several genes may explain the CH discordance of a monozygotic twin couple carrying a monoallelic nonsense mutation of DUOX2. In addition, the median number of hyp

SUBMITTER: Gentilini D 

PROVIDER: S-EPMC9859866 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature