In the mouse Gli2 has been shown to be required for the full extent of growth and elaboration of the cerebellar lobes.35 In addition, truncating GLI2 mutations have been reported to cause holoprosencephaly with and without pituitary hormone deficiencies and craniofacial features.29 The alteration of GLI2 expression in fibroblasts from NCK033 is consistent with the cerebellar atrophy in this individual. This evidence concerns the gene GLI2 and Cerebellar atrophy.