Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome

Mayer Rokitansky Kuster Hauser Syndrome

In order to understand the molecular mechanisms leading to Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), the research team has to identify molecular bases of this anomaly. Toward this goal, the research team would like to include in the study patients with MRKH syndrome, as well as their healthy relatives, in order to perform genetic analyses, especially whole exome sequencing. This study has been set up in order to collect biological samples from patients with MRKH and their relatives.

The MRKH is a congenital and rare malformation characterised by the absence of the uterus and of 2/3 of the vagina. The incidence is 1 in 4500 female children (46,XX) and a genetic component has been identified. In order to understand the molecular mechanisms leading to this disease, the research team has to identify the genetic abnormalities. This study will be led by the research team of the Imagine Institute and the clinical teams associated with the Reference Center for Rare Diseases PGR (Rare Gynecologic Diseases). Both groups are based on the Necker Hospital campus, and already closely collaborate on research into MRKH syndrome. This collaboration will allow to : i) collect biological samples from the propositus and their relatives, ii) have a medical expertise. The clinicians involved in the study will recruit patients, whose participation will involve providing a biological sample, ie, a blood sample and/or uterine tissue collected during surgical ablation, in the event that surgery is performed during clinical follow-up of the patients. No specific intervention will be planned for the purposes of this study. In order to perform genetic analysis on trios, the healthy relatives of the patients (parents, brothers, sisters) will also be included. Blood samples will be taken once for healthy relatives. Genetic analysis, especially whole exome sequencing, will be performed on blood samples by the research team of Imagine Institute.

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