Array-comparative genomic hybridization analysis in patients with Mullerian fusion anomalies

Fusion anomalies of the Mullerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-comparative genomic hybridization (CGH) analysis in a cohort of 103 patients with Mullerian fusion anomalies. In 8 patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11.21, 9q33.1, 3q26.11 and 7q31.1. The rearrangement in 17q12 including LHX1 and HNF1 as well as in 22q11.21 have already been observed in MRKHS (Mayer-Rokitansky-Kuster-Hauser syndrome). In summary, we (1) detected causative micro-rearrangements in patients with Mullerian fusion anomalies, (2) show that Mullerian fusion anomalies and MRKHS may have a common etiology, and (3) identified new candidate genes for Mullerian fusion anomalies.