Thus, altered expression of MIR505 could be involved in the occurrence of spina bifida in the proband from the Chinese family with CGH that is associated with a deletion of Xq27.1 and insertion of 5q35.3 (29), although it also remains possible that it is the deletion-insertion associated disruption of SOX3 itself that is responsible for spina bifida, as SOX3 dysfunction has been reported to be linked to neural tube defects in human (24, 25). This evidence concerns the gene MIR505 and spina bifida.