Mutated patients showed a variability of phenotypes but all share at least the association of sacral agenesis and presacral mass, and this co-occurrence can constitute a pathognomonic sign to perform MNX1 analysis.
The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9).
Together with the finding that mutation of the pancreatic transcription factor HLXB9 causes sacral agenesis, our results implicate pancreatic transcription factors in the pathogenesis of birth defects associated with diabetes.