ArticleOrphanet journal of rare diseases2017
A novel mutation of HOXA11 in a patient with septate uterus.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 17 citations in OpenAlex.
- Review
- The impact of uterine cavity structural features on reproductive outcomes in T-shaped uterine malformation.Journal of ultrasound · 2025Article
- The Estrogen Receptor α Cistrome in Human Endometrium and Epithelial Organoids.Endocrinology · 2022Article
- Downregulation of HOXA11 enhances endometrial cancer malignancy and cisplatin resistance via activating PTEN/AKT signaling pathway.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Article
- Studying Müllerian duct anomalies - from cataloguing phenotypes to discovering causation.Disease models & mechanisms · 2021Review
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Authors and funding
8 authors at 4 institutions in 1 country.
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Abstract
backgroundThe 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.
resultsWe 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.
conclusionIn 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.
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