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

BACKGROUND: Mullerian duct anomalies consist of a set of congenital structural malformations that occur when the Mullerian 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 Mullerian 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 Mullerian duct anomalies and confirmed that HOXA10 is an important transcription factor in reproductive tract development.