Did Akhenaten Have the Antley–Bixler Syndrome?
IN RESPONSE: Our analysis of Akhenaten’s kindred revealed 2 abnormalities: craniosynostosis and gynecomastia. These were best explained by 2 genetic disorders: sagittal craniosynostosis and the aromatase syndrome producing excessive estrogen. The Antley–Bixler syndrome (1) was brought to our attention as a possible explanation for our findings. However, the type of cranial deformity in ABS is very different from that found in Akhenaten’s kindred, and infertility was not a problem for Akhenaten. However, the gene for the aromatase syndrome regulates a portion of the P450 enzyme system, and the gene for POR deficiency also regulates a portion of the P450 enzyme system. Because ABS with cranial abnormalities and deficient steroidogenesis is caused by a single gene related to the P450 system, we postulate the possibility of a novel gene that would produce both sagittal craniosynostosis and excessive estrogen formation. A starting point to look for this gene in DNA obtained from appropriate
