A novel mutation of HOXA11 in a patient with septate uterus

Ying Zhu,
Zhi Cheng,
Jing Wang,
Beihong Liu,
Longfei Cheng,
Beili Chen,
Yunxia CaoEmail author and
Binbin WangEmail author

Orphanet Journal of Rare Diseases201712:178

https://doi.org/10.1186/s13023-017-0727-9

Received: 10 August 2017

Accepted: 23 November 2017

Published: 11 December 2017

Abstract

Background

The etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDAs with a novel mutation in HOXA11.

Results

We identified a potential disease-causing mutation (p. E255K) in a patient with a septate uterus. The mutation was not detected in 169 control subjects or listed in any databases of variations. Bioinformatic predictions and functional studies showed that the mutation reduces the DNA binding affinity and disrupts transactivation ability of HOXA11.

Conclusion

In conclusion, this is the first report to describe a HOXA11 mutation in Chinese women with MDAs. The results demonstrated that mutation in HOXA11 can contribute to the etiology of MDAs, especially the septate uterus, but might not be a common cause.