A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.

ABSTRACT:

Background

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is present in at least 1 out of 4,500 female live births and is the second most common cause for primary amenorrhea. It is characterized by vaginal and uterine aplasia in an XX individual with normal secondary characteristics. It has long been considered a sporadic anomaly, but familial clustering occurs. Several candidate genes have been studied although no single factor has yet been identified. Cases of discordant monozygotic twins suggest that the involvement of epigenetic factors is more likely.

Methods

Differences in gene expression and methylation patterns of uterine tissue between eight MRKH patients and eight controls were identified using whole-genome microarray analyses. Results obtained by expression an

SUBMITTER: Rall K 

PROVIDER: S-EPMC3123171 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature