what mutation causes aicardi syndrome
Aicardi syndrome is a rare neurologic disorder first described by the French neurologist, Dr. Jean Aicardi, in 1965. It occurs almost exclusively in females (46,XX), however, it can also occur in males with Klinfelter Syndrome (47,XXY). A handful of reports in the literature exist of Aicardi syndrome in a normal male. Some of these reports have been disputed, and it is possible that these cases are caused by mosaic mutations of the Aicardi syndrome gene(s).