Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

ObjectiveTo identify genetic causes of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.DesignProspective laboratory study.SettingUniversity hospital.Patient(s)Fifty-six patients with MRKH syndrome.Intervention(s)Identification of microdeletions and –duplications in a group of 48 MRKH patients by array-CGH. Results obtained by array-CGH were confirmed by RT-qPCR. Sequential analysis of two candidate genes LHX1 and HNF1B in a group of 56 MRKH patients.Main Outcome Measure(s)Identification of chromosomal regions and genes (recurrent and private) associated with MRKH syndrome.Result(s)We could delineate three definitively relevant regions (1q21.1, 17q12, and 22q11.21) and suggest that LHX1 und HNF1B are candidate genes for MRKH syndrome, because we identified recurrent deletions affecting these genes and a possible causative missense mutation in LHX1.Conclusion(s)Our findings suggest that different chromosomal regions are associated with MRKH syndrome.