Programme "Scientific projects"

Unravelling the genetic basis of Mayer-Rokitansky-Kuster-Hauser syndrome through whole exome sequencing

Biomedical Sciences Research Center "Alexander Fleming"


ΤMayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital disorder in which the Müllerian ducts fail to develop, leading to aplasia of the uterus and the vagina. MRKH syndrome affects 1/5,000 female live births, results in infertility, and may be accompanied by severe malformations of the urinary tract and spine. Over the last two decades, evidence for a genetic basis of this disorder has accumulated. Despite multiple investigations however, genetic variants and genes involved in MRKH syndrome remain elusive. Here we propose to apply whole exome sequecing (WES) in Greek families to address genetic factors underlying MRKH syndrome. To our knowledge this is the first time such an approach will be applied in the context of this disorder. We expect findings to shed light into biological pathways guiding the development of the female reproductive system, but also to have significant counselling value for MRKH patients and family members. 

This project was evaluated and funded as part of the Foundation’s effort to support research teams with all their members being under 40 years old.

Final report


Antigone Dimas, Postdoctoral Researcher, BSRC "Alexander Fleming"

Project's Team:

Klelia-Kalliopi Salpea, Postdoctoral Researcher, BSRC "Alexander Fleming"

34, Fleming St.

16672 Vari

Tel.: +30 210 96 56 310

Fax: +30 210 96 53 934