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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: OBJECTIVE, METHODS, METHODS, METHODS, METHODS, METHODS, RESULTS. Meshes: Adult, Amino Acid Sequence, Base Sequence, Case-Control Studies, Codon, Nonsense, DNA Mutational Analysis, Female, Genetic Association Studies, HEK293 Cells, Homeodomain Proteins, Humans, Molecular Sequence Data, Mullerian Ducts, Transcription Factors, Urogenital Abnormalities, Uterus.
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Is nonsense mutation of EMX2 potential causative for uterus didelphysis : first molecular explanation for isolated incomplete müllerian fusion? Context: To investigate the association between human empty spiracles homeobox 2 gene (EMX2) and incomplete müllerian fusion (IMF). Case-control study. University-based hospital. Cohort of 517 clinically well-characterized IMF cases and 563 control women. None. In cases and control women, direct sequencing of EMX2 exons and further functional studies; for functional studies, wild-type and mutant EMX2 expression plasmids constructed; human embryonic kidney cells (HEK293FT) transfected with empty vector, wild-type EMX2, mutant EMX2, and 1:1 combination (wild-type/mutant plasmids) with additional functional studies performed to clarify the deleterious effect of the novel mutation detected. A novel nonsense mutation p.E142X was detected in one woman with a didelphic uterus (1 of 517, 0.19%). The results of Western blot analysis confirmed that the mutation caused a truncated protein as predicted, and functional studies proved that it resulted in a dominant negative effect.
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The novel nonsense mutation we detected-EMX2, p.E142X- resulted in a dominant negative effect. The functional data were exemplified in HEK293FT cells. This reinforced the likelihood that EMX2 contributed to the pathophysiology of IMF. Although it is uncommon (0.19%), EMX2 is the first gene identified that if perturbed may cause isolated IMF. Final Decision: yes