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

作者：Cheng, Zhi; Zhu, Ying; Su, Dongmei; Wang, Jing; Cheng, Longfei; Chen, Beili; Wei, Zhaolian; Zhou, Ping; Wang, Binbin; Ma, Xu; Cao, Yunxia^*

来源：Human Reproduction, 2011, 26(11): 3197-3201.

DOI：10.1093/humrep/der290

• HOXA10
• mutation
• Mullerian duct anomalies

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.

• 出版日期2011-11
• 单位国家卫生计生委科学技术研究所; 安徽医科大学; 中国医学科学院北京协和医院