A novel mutation of HOXA10 in a Chinese woman with a Mullerian duct anomaly.

BACKGROUND Müllerian duct anomalies consist of a set of congenital structural malformations that occur when the Müllerian ducts do not develop properly during embryonic life. Their molecular genetic basis is poorly understood. METHODS In this study, we conducted mutation analysis of the HOXA10 gene in a cohort of 109 Chinese women with Müllerian duct anomalies. RESULTS We identified a novel mutation (Y57C) in one patient with a didelphic uterus. The mutation affected the transcriptional regulation capacity of HOXA10. CONCLUSIONS Our study showed that mutation of HOXA10 gene may contribute to the development of Müllerian duct anomalies and confirmed that HOXA10 is an important transcription factor in reproductive tract development.